# Europe PMC — Zapi reference > Europe PMC life-science literature — search, citations, references, full text, books, supplementary files, text-mined annotations and grants. **Base URL:** `https://api.zpi.web.id` **Auth:** Send `x-api-key: YOUR_KEY` header on every request. Get a free key at https://zpi.web.id/dashboard/keys. **Response envelope:** `{ content, message, errors }` **Rate limit:** 60 req/min on free tier. **Related:** - Detail page: https://zpi.web.id/api/research/europepmc - Endpoint catalog: https://zpi.web.id/category/research - Concise index: https://zpi.web.id/llms.txt - Full reference: https://zpi.web.id/llms-full.txt --- ## Europe PMC **Category:** research · **Slug:** `europepmc` **Detail page:** https://zpi.web.id/api/research/europepmc Europe PMC life-science literature — search, citations, references, full text, books, supplementary files, text-mined annotations and grants. **Tags:** europepmc, literature, open-access, biomedical, citations ### Annotations By Article Text-mined entities for named articles. This replaces the retired textMinedTerms route; one unfiltered article can exceed 130 KB, so the body is read under a ceiling. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/annotations-by-article` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `articleIds` | string | query | yes | One or more SOURCE:ID pairs separated by commas, such as MED:33301246,PMC:PMC7745181. Up to 8 per call | | `type` | enum(Gene_Proteins|Chemicals|Diseases|Organisms|Accession Numbers|Gene Ontology|Sequence Ontology|Experimental Methods|Cell|Cell Line|Body Part) | query | no | Restrict to one entity type. Default all types | | `section` | enum(Title|Abstract|Introduction|Methods|Results|Discussion|Conclusion) | query | no | Restrict to one article section. Default all sections | | `annotationProvider` | string | query | no | Restrict to one annotation provider. Default all providers | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/annotations-by-article?articleIds=MED%3A33301246&type=Diseases§ion=Abstract&annotationProvider=Europe%20PMC" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/annotations-by-article?articleIds=MED%3A33301246&type=Diseases§ion=Abstract&annotationProvider=Europe%20PMC", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/annotations-by-article?articleIds=MED%3A33301246&type=Diseases§ion=Abstract&annotationProvider=Europe%20PMC", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "count": 1, "items": [ { "id": "33301246", "count": 8, "pmcid": "PMC7745181", "source": "MED", "annotations": [ { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C3714514", "name": "infestations and infections" } ], "type": "Diseases", "exact": "infection", "prefix": "coronavirus 2 (SARS-CoV-2)", "postfix": "and the resulting", "section": "Abstract (http://purl.org/dc/terms/abstract)", "frequency": null, "annotationId": "http://europepmc.org/article/MED/33301246#europepmc-2faf2bd76e3bbc392264592dd9233545", "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C5203670", "name": "caused by sarscov2" } ], "type": "Diseases", "exact": "coronavirus disease 2019", "prefix": "and the resulting", "postfix": "disease 2019 (Covid-19)", "section": "Abstract (http://purl.org/dc/terms/abstract)", "frequency": null, "annotationId": "http://europepmc.org/article/MED/33301246#europepmc-7e5d5f7cd73d9b67569981d4a0b22dcb", "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C5203670", "name": "caused by sarscov2" } ], "type": "Diseases", "exact": "Covid-19", "prefix": "coronavirus disease 2019 (", "postfix": ") have afflicted tens", "section": "Abstract (http://purl.org/dc/terms/abstract)", "frequency": null, "annotationId": "http://europepmc.org/article/MED/33301246#europepmc-6f8bcca3fcd3b25894f64051db8fe268", "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C5203670", "name": "caused by sarscov2" } ], "type": "Diseases", "exact": "Covid-19", "prefix": "8 cases of", "postfix": "with onset at", "section": "Abstract (http://purl.org/dc/terms/abstract)", "frequency": null, "annotationId": "http://europepmc.org/article/MED/33301246#europepmc-c1eba6c1ecf105a226e8018c3198fbb9", "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C4015542", "name": "nphp19" } ], "type": "Diseases", "exact": "-19", "prefix": "effective in preventing Covid", "postfix": "(95% credible interval,", "section": "Abstract (http://purl.org/dc/terms/abstract)", "frequency": null, "annotationId": "http://europepmc.org/article/MED/33301246#europepmc-245ee7e47aba17ad0b9a8cf7dda8ce4b", "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C5203670", "name": "caused by sarscov2" } ], "type": "Diseases", "exact": "Covid-19", "prefix": "cases of severe", "postfix": "with onset after", "section": "Abstract (http://purl.org/dc/terms/abstract)", "frequency": null, "annotationId": "http://europepmc.org/article/MED/33301246#europepmc-c9b8eec0b6d3a19d870ba3396b50a621", "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C5203670", "name": "caused by sarscov2" } ], "type": "Diseases", "exact": "Covid-19", "prefix": "95% protection against", "postfix": "in persons 16", "section": "Abstract (http://purl.org/dc/terms/abstract)", "frequency": null, "annotationId": "http://europepmc.org/article/MED/33301246#europepmc-357ba54785956dff304a9d811f94e755", "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C5203670", "name": "caused by sarscov2" } ], "type": "Diseases", "exact": "Covid-19", "prefix": "e against laboratory-confirmed", "postfix": "and safety.", "section": "Abstract (http://purl.org/dc/terms/abstract)", "frequency": null, "annotationId": "http://europepmc.org/article/MED/33301246#europepmc-773e97947b1b24c615a36cd3f8f94e1f", "annotationProvider": "Europe PMC" } ], "fullTextIds": [ "PMC7745181" ] } ], "provider": "europepmc", "articleIds": [ "MED:33301246" ] } ``` --- ### Annotations By Provider Bulk annotation stream for one provider. Measured at ~820 KB per article, so the page size is capped hard and the body is read against a ceiling and the deadline. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/annotations-by-provider` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `annotationProvider` | string | query | yes | Annotation provider to stream, such as Europe PMC, IntAct or OpenTargets | | `cursor` | string | query | no | Cursor for the next slice. Start at 0 then pass nextCursor | | `limit` | number | query | no | Articles per call. Default 1, max 3 — one article averages 820 KB | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/annotations-by-provider?annotationProvider=Europe%20PMC&cursor=0&limit=1" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/annotations-by-provider?annotationProvider=Europe%20PMC&cursor=0&limit=1", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/annotations-by-provider?annotationProvider=Europe%20PMC&cursor=0&limit=1", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "count": 1, "items": [ { "id": "PMC11231130", "count": 4539, "pmcid": "PMC11231130", "source": "PMC", "annotations": [ { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C0007222", "name": "Cardiovascular Disease" } ], "type": "Diseases", "exact": "Cardiovascular Disease", "prefix": null, "postfix": null, "section": null, "frequency": 43, "annotationId": null, "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C1609538", "name": "Latent Tuberculosis Infection" } ], "type": "Diseases", "exact": "Latent Tuberculosis Infection", "prefix": null, "postfix": null, "section": null, "frequency": 4, "annotationId": null, "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C0242339", "name": "dyslipidemia" } ], "type": "Diseases", "exact": "dyslipidemia", "prefix": null, "postfix": null, "section": null, "frequency": 15, "annotationId": null, "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C0011847", "name": "diabetes" } ], "type": "Diseases", "exact": "diabetes", "prefix": null, "postfix": null, "section": null, "frequency": 470, "annotationId": null, "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C0020538", "name": "hypertension" } ], "type": "Diseases", "exact": "hypertension", "prefix": null, "postfix": null, "section": null, "frequency": 452, "annotationId": null, "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C0028754", "name": "Obesity" } ], "type": "Diseases", "exact": "Obesity", "prefix": null, "postfix": null, "section": null, "frequency": 240, "annotationId": null, "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://linkedlifedata.com/resource/umls-concept/C0008679", "name": "chronic diseases" } ], "type": "Diseases", "exact": "chronic diseases", "prefix": null, "postfix": null, "section": null, "frequency": 23, "annotationId": null, "annotationProvider": "Europe PMC" }, { "tags": [ { "uri": "http://www.ebi.ac.uk/efo/EFO_0010064", "name": "pharmacotherapy" } ], "type": "Experimental Methods", "exact": "pharmacotherapy", "prefix": null, "postfix": null, "section": null, "frequency": 23, "annotationId": null, "annotationProvider": "Europe PMC" } ], "fullTextIds": [ "PMC11231130" ] } ], "limit": 1, "hasMore": true, "provider": "europepmc", "nextCursor": "28754.31123113", "annotationProvider": "Europe PMC" } ``` --- ### Article One Europe PMC record, resolved through the EXT_ID+SRC fast path of /search at resultType=core — the only shape that carries all 48 fields and the has* routing flags. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/article` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `id` | string | query | yes | Article identifier within the source — a PMID for MED, a PMCID for PMC | | `source` | enum(MED|PMC|PPR|AGR|CBA|CTX|ETH|HIR|PAT|NBK) | query | no | Source archive the id belongs to. Default MED | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/article?id=33301246&source=MED" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/article?id=33301246&source=MED", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/article?id=33301246&source=MED", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "id": "33301246", "doi": "10.1056/nejmoa2034577", "pmid": "33301246", "inPMC": true, "pmcid": "PMC7745181", "title": "Safety and Efficacy of the BNT162b2 mRNA Covid-19 Vaccine.", "grants": [ { "agency": "BioNTech and Pfizer", "acronym": null, "grantId": null, "orderIn": 0 } ], "hasPDF": true, "inEPMC": true, "source": "MED", "authMan": false, "authors": [ { "orcid": null, "fullName": "Polack FP", "initials": "FP", "lastName": "Polack", "firstName": "Fernando P", "affiliations": [ "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)." ], "collectiveName": null }, { "orcid": null, "fullName": "Thomas SJ", "initials": "SJ", "lastName": "Thomas", "firstName": "Stephen J", "affiliations": [ "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)." ], "collectiveName": null }, { "orcid": null, "fullName": "Kitchin N", "initials": "N", "lastName": "Kitchin", "firstName": "Nicholas", "affiliations": [ "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)." ], "collectiveName": null }, { "orcid": null, "fullName": "Absalon J", "initials": "J", "lastName": "Absalon", "firstName": "Judith", "affiliations": [ "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)." ], "collectiveName": null }, { "orcid": null, "fullName": "Gurtman A", "initials": "A", "lastName": "Gurtman", "firstName": "Alejandra", "affiliations": [ "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)." ], "collectiveName": null }, { "orcid": "0000-0002-0805-2193", "fullName": "Lockhart S", "initials": "S", "lastName": "Lockhart", "firstName": "Stephen", "affiliations": [ "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)." ], "collectiveName": null }, { "orcid": null, "fullName": "Perez JL", "initials": "JL", "lastName": "Perez", "firstName": "John L", "affiliations": [ "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)." ], "collectiveName": null }, { "orcid": null, "fullName": "Pérez Marc G", "initials": "G", "lastName": "Pérez Marc", "firstName": "Gonzalo", "affiliations": [ "From Fundacion INFANT (F.P.P.) and iTrials-Hospital Militar Central (G.P.M.), Buenos Aires; State University of New York, Upstate Medical University, Syracuse (S.J.T.), and Vaccine Research and Development, Pfizer, Pearl River (J.A., A.G., K.A.S., K.K., W.V.K., D.C., P.R.D., K.U.J., W.C.G.) - both in New York; Vaccine Research and Development, Pfizer, Hurley, United Kingdom (N.K., S.L., R.B.); Vaccine Research and Development (J.L.P., P.L.) and Worldwide Safety, Safety Surveillance and Risk Management (S.M.), Pfizer, Collegeville, PA; Associação Obras Sociais Irmã Dulce and Oswaldo Cruz Foundation, Bahia (E.D.M.), and Centro Paulista de Investigação Clinica, São Paulo (C.Z.) - both in Brazil; Global Product Development, Pfizer, Peapack, NJ (S.R.); Cincinnati Children's Hospital, Cincinnati (R.W.F.); Johns Hopkins Bloomberg School of Public Health, Baltimore (L.L.H.); BioNTech, Mainz (ÖT., U.Ş.), and Medizentrum Essen Borbeck, Essen (A.S.) - both in Germany; Tiervlei Trial Centre, Karl Bremer Hospital, Cape Town, South Africa (H.N.); Hacettepe University, Ankara, Turkey (S.Ü.); and Worldwide Safety, Safety Surveillance and Risk Management, Pfizer, Groton, CT (D.B.T.)." ], "collectiveName": null } ], "hasBook": false, "hasData": true, "license": null, "pubYear": 2020, "subsets": [ { "code": "IM", "name": "Index Medicus" } ], "abstract": "

Background

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and the resulting coronavirus disease 2019 (Covid-19) have afflicted tens of millions of people in a worldwide pandemic. Safe and effective vaccines are needed urgently.

Methods

In an ongoing multinational, placebo-controlled, observer-blinded, pivotal efficacy trial, we randomly assigned persons 16 years of age or older in a 1:1 ratio to receive two doses, 21 days apart, of either placebo or the BNT162b2 vaccine candidate (30 μg per dose). BNT162b2 is a lipid nanoparticle-formulated, nucleoside-modified RNA vaccine that encodes a prefusion stabilized, membrane-anchored SARS-CoV-2 full-length spike protein. The primary end points were efficacy of the vaccine against laboratory-confirmed Covid-19 and safety.

Results

A total of 43,548 participants underwent randomization, of whom 43,448 received injections: 21,720 with BNT162b2 and 21,728 with placebo. There were 8 cases of Covid-19 with onset at least 7 days after the second dose among participants assigned to receive BNT162b2 and 162 cases among those assigned to placebo; BNT162b2 was 95% effective in preventing Covid-19 (95% credible interval, 90.3 to 97.6). Similar vaccine efficacy (generally 90 to 100%) was observed across subgroups defined by age, sex, race, ethnicity, baseline body-mass index, and the presence of coexisting conditions. Among 10 cases of severe Covid-19 with onset after the first dose, 9 occurred in placebo recipients and 1 in a BNT162b2 recipient. The safety profile of BNT162b2 was characterized by short-term, mild-to-moderate pain at the injection site, fatigue, and headache. The incidence of serious adverse events was low and was similar in the vaccine and placebo groups.

Conclusions

A two-dose regimen of BNT162b2 conferred 95% protection against Covid-19 in persons 16 years of age or older. Safety over a median of 2 months was similar to that of other viral vaccines. 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"commentCorrections": [ { "id": "33301245", "type": "Comment in", "source": "MED", "orderIn": 1, "reference": "N Engl J Med. 2020 Dec 31;383(27):2677-2678. doi: 10.1056/NEJMe2034717." }, { "id": "33311629", "type": "Comment in", "source": "MED", "orderIn": 2, "reference": "Nature. 2020 Dec;588(7838):377-378. doi: 10.1038/d41586-020-03542-4." }, { "id": "33478841", "type": "Comment in", "source": "MED", "orderIn": 3, "reference": "Semergen. 2021 Jan-Feb;47(1):1-3. doi: 10.1016/j.semerg.2020.12.005." }, { "id": "33480519", "type": "Comment in", "source": "MED", "orderIn": 4, "reference": "Panminerva Med. 2022 Mar;64(1):131-132. doi: 10.23736/S0031-0808.21.04286-5." }, { "id": "33524290", "type": "Comment in", "source": "MED", "orderIn": 5, "reference": "Ann Intern Med. 2021 Feb;174(2):JC15. doi: 10.7326/ACPJ202102160-015." }, { "id": "33527275", "type": "Comment in", "source": "MED", "orderIn": 6, "reference": "MMW Fortschr Med. 2021 Feb;163(2):24-25. doi: 10.1007/s15006-021-9577-4." }, { "id": "33596348", "type": "Comment in", "source": "MED", "orderIn": 7, "reference": "N Engl J Med. 2021 Apr 22;384(16):1576-1577. doi: 10.1056/NEJMc2036242." }, { "id": "33596349", "type": "Comment in", "source": "MED", "orderIn": 8, "reference": "N Engl J Med. 2021 Apr 22;384(16):1577. doi: 10.1056/NEJMc2036242." } ], "firstPublicationDate": "2020-12-10", "fullTextReceivedDate": "2025-02-03", "hasDbCrossReferences": false, "hasTMAccessionNumbers": true, "electronicPublicationDate": "2020-12-10" } ``` --- ### Book Book XML from the NCBI Bookshelf mirror. NBK1116 alone is 4.1 MB, so the byte ceiling and the deadline are load-bearing, not decoration. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/book` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `nbkId` | string | query | yes | NCBI Bookshelf identifier of the book or chapter | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/book?nbkId=NBK1116" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/book?nbkId=NBK1116", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/book?nbkId=NBK1116", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "id": "NBK1116", "bytes": 4108845, "format": "xml", "source": "NBK", "content": "geneGeneReviews®AdamMargaret PEditor-in-ChiefBickSarahMedical EditorMirzaaGhayda MMedical EditorPagonRoberta AMedical EditorWallaceStephanie EMedical EditorAmemiyaAnneGenetic Counseling Editor199320262372-0697University of Washington, SeattleSeattle (WA)Copyright © 1993-2026, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved. Test.GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (https://www.genereviews.org) and copyright (© 1993-2026 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. 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books-source-typeDatabase1q21.1 Recurrent DeletionGuoRoseDOCone HealthGreensboro, North Carolinarose.guo@conehealth.comHaldeman-EnglertChad RMDMission Fullerton Genetics CenterAsheville, North Carolinachad.haldemanenglert@hcahealthcare.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n3-Hydroxyisobutyryl-CoA Hydrolase DeficiencySynonym: HIBCH DeficiencyAbdenurJoseMDjabdenur@choc.orgBarrickRebekahMS, CGCrebekah.barrick@choc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n3-M SyndromeSynonyms: Three M Syndrome, 3M SyndromeAkilapaRhodaBMBS, BMedScirhoda.akilapa@gstt.nhs.ukIrvingMelitaMBBS, MD(Res)melita.irving@gstt.nhs.ukHolder-EspinasseMurielMD, PhDmuriel.holder@gstt.nhs.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n3q29 Recurrent DeletionSynonyms: 3q29 Deletion Syndrome, 3q29 Microdeletion SyndromeMulleJennifer GladysMHS, PhDjennifer.mulle@rutgers.eduGambelloMichael JMD, PhDmichael.j.gambello@emory.eduSanchez RussoRossanaMDrossana.sanchez@emory.eduMurphyMelissa MPhDmelissa.murphy@emory.eduBurrellT LindseyPhDlindsey.burrell@choa.orgKlaimanCherylPhDcheryl.klaiman@emory.eduWhiteStormiPsyDstormi.pulver.white@emory.eduSaulnierCeline APhDceline@nacsatl.comWalkerElaine FPhDpsyefw@emory.eduCubellsJoseph FMD, PhDjcubell@emory.eduShultzSarahPhDsarah.shultz@emory.eduLiLongchuanPhDlongchuan.li@emory.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n7q11.23 Duplication SyndromeMervisCarolyn BPhDUniversity of LouisvilleLouisville, Kentuckycbmervis@louisville.eduMorrisColleen AMDUniversity of Nevada School of MedicineLas Vegas, Nevadacolleen.morris@unlv.eduKlein-TasmanBonita PPhDUniversity of Wisconsin-MilwaukeeMilwaukee, Wisconsinbklein@uwm.eduVellemanShelley LPhDUniversity of VermontBurlington, Vermontshelley.velleman@med.uvm.eduOsborneLucy RPhDUniversity of TorontoToronto, Ontario, Canadalucy.osborne@utoronto.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n15q13.3 Recurrent Deletionvan BonBregje WMMD, PhDbregje.vanbon@radboudumc.nlMeffordHeather CMD, PhDheather.mefford@stjude.orgde VriesBert BAMD, PhDbert.devries@radboudumc.nlSchaafChristian PMD, PhDchristian.schaaf@med.uni-heidelberg.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n16p11.2 Recurrent DeletionTaylorCora MPhDcmtaylor1@geisinger.eduSmithRebeccaMS, CGCrsmith6@geisinger.eduLehmanChristopherMScdlehman@geisinger.eduMitchelMarissa WMS, CCC-SLPmwmitchel@geisinger.eduSingerKaitlynMSkesinger@geisinger.eduWeaverW CurtisBSwcweaver@geisinger.eduChungWendyMD, PhD, FACMGwkc15@columbia.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n16p12.2 Recurrent DeletionSynonym: 16p12.1 MicrodeletionSmolenCorrineMSDepartment of Biochemistry and Molecular BiologyPennsylvania State UniversityUniversity Park, Pennsylvaniaces6136@psu.eduMyersScottMDProfessor,Department of Developmental Medicine, Geisinger College of Health Sciences, Lewisburg, PAsmyers1@geisinger.eduGirirajanSanthoshMBBS, PhDProfessor, Department of Biochemistry and Molecular BiologyDepartment of AnthropologyPennsylvania State UniversityUniversity Park, Pennsylvaniasxg47@psu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n17q12 Recurrent Deletion SyndromeMitchelMarissa WMS, CCC-SLPmwmitchel@geisinger.eduMoreno-De-LucaDanielMD, MScdaniel.morenodeluca@ualberta.caMyersScott MMDsmyers1@geisinger.eduLevyRebecca VBM BCh, MScrebecca_levy@urmc.rochester.eduTurnerStefanieMS, CGCstefturn13@gmail.comLedbetterDavid HPhD, FACMGdavid.ledbetter@jax.ufl.eduMartinChrista LPhD, FACMGclmartin1@geisinger.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n17q12 Recurrent DuplicationMeffordHeatherMD, PhDCenter for Pediatric Neurological Disease ResearchDepartment of Cellular and Molecular BiologySt Jude Children's Research HospitalMemphis, Tennesseeheather.mefford@stjude.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n21-Hydroxylase-Deficient Congenital Adrenal HyperplasiaSynonyms: 21-OHD CAH, Virilizing Adrenal HyperplasiaNimkarnSarojMDsnimkarn@gmail.comGangishettiPrasanna KMBBSprasanna252@gmail.comYauMabelMDmabel.yau@mssm.eduNewMaria IMDmaria.new@mssm.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n22q11.2 Deletion SyndromeSynonym: 22q11.2DSMcDonald-McGinnDonna MMS, LCGCmcginn@email.chop.eduHainHeather SPhD, MS, LCGChainh@email.chop.eduEmanuelBeverly SPhDbeverly@mail.med.upenn.eduZackaiElaine HMD, FACMGzackai@email.chop.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">AARS2</italic>-Related DisorderChmielaTomaszMDchmiela.tomasz@mayo.eduWszolekZbigniew KMDwszolek.zbigniew@mayo.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAbetalipoproteinemiaSynonym: Bassen-Kornzweig SyndromeBurnettJohn RMB ChB, MD, PhD, FRCPAjohn.burnett@health.wa.gov.auHooperAmanda JPhDamanda.hooper@health.wa.gov.auHegeleRobert AMD, FRCPC, FACPhegele@robarts.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAceruloplasminemiaMiyajimaHiroakiMDmiyajima@hama-med.ac.jpHosoiYasushiMDy.hosoi@hama-med.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nAchondrogenesis Type 1BSynonym: ACG1B, SLC26A2-Related AchondrogenesisUngerSheilaMDAssociate Professor, Service of Genetic MedicineLausanne University HospitalLausanne, Switzerlandsheila.unger@chuv.chSuperti-FurgaAndreaMDProfessor of PediatricsDepartment of MedicineLausanne University HospitalLausanne, Switzerlandasuperti@unil.ch\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAchondroplasiaSynonym: FGFR3-Related AchondroplasiaLegareJanet MMDjmlegare@pediatrics.wisc.eduModaffPeggyMSmodaff@waisman.wisc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAchromatopsiaKohlSusanneMSc, PhDsusanne.kohl@uni-tuebingen.deJägleHerbertMD, Dhabil, FEBOherbert.jaegle@ukr.deWissingerBerndMSc, PhDwissinger@uni-tuebingen.deZoborDittaMD, PhD, Dhabil, FEBOditta.zobor@uni-tuebingen.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAcid Sphingomyelinase DeficiencyWassersteinMelissa PMDProfessor & Chief, Division of Pediatric Genetic MedicineAlbert Einstein College of MedicineNew York, New Yorkmwassers@montefiore.orgSchuchmanEdward HPhDFrancis Crick ProfessorGenetic Disease FoundationDepartment of Genetics & Genomic SciencesIcahn School of Medicine at Mount SinaiNew York, New Yorkedward.schuchman@mssm.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ACTG2</italic> Visceral MyopathySynonyms: Berdon Syndrome, Familial Visceral MyopathyBhagwatPranjali KMTech (Pharm)pranjali.bhagwat@bcm.eduWanglerMichael FMDmw147467@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nActivated PI3K Delta SyndromeSynonyms: Activated Phosphoinositide 3-Kinase Delta (PI3Kδ) Syndrome; APDS; p110δ-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency Disease; PASLI Disease; PI3K DiseaseSaccoKeithMDThe Royal London HospitalBarts Health NHS TrustLondon, UKkeith.sacco@nhs.netUzelGulbuMDNational Institute of Allergy and Infectious DiseasesNational Institutes of HealthBethesda, Marylandguzel@niaid.nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReviews</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAcute Intermittent PorphyriaSynonyms: PBGD Deficiency, Porphobilinogen Deaminase DeficiencySardhElianeMD, PhDeliane.sardh@ki.seBarbaroMichelaSc, PhDmichela.barbaro@regionstockholm.se\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ADAMTSL4-</italic>Related Eye DisordersRødahlEyvindMD, PhDeyvind.rodahl@helse-bergen.noMellgrenAnne Elisabeth ChristensenMD, PhDanne.christensen@uib.noBoonstraNils-ErikMDnils-erik.boonstra@helse-bergen.noKnappskogPer MortenPhDper.morten.knappskog@helse-bergen.no\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ADCY5</italic>-Related Movement DisorderYangKathrynMBChB, FRCPCkathryn.yang@childrens.harvard.eduEbrahimi-FakhariDariusMD, PhDdarius.ebrahimi-fakhari@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAdenine Phosphoribosyltransferase DeficiencySynonyms: 2,8-Dihydroxyadeninuria; APRT DeficiencyEdvardssonVidar OrnMDDivision of Pediatric Nephrology\nChildren's Medical Center\nLandspítali –The National University Hospital of Iceland\nReykjavik, Icelandvidare@landspitali.isSahotaAmrikPhDDepartment of Genetics\nRutgers University\nPiscataway, New Jerseysahota@biology.rutgers.eduPalssonRunolfurMDDivision of Nephrology\nLandspítali –The National University Hospital of Iceland\nUniversity of Iceland\nReykjavik, Icelandrunolfur@landspitali.is\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nAdenosine Deaminase 2 DeficiencySynonyms: ADA2 Deficiency, Deficiency of Adenosine Deaminase 2 (DADA2)AksentijevichIvonaMDaksentii@arb.niams.nih.govSampaio MouraNataliaBSnatalia.sampaiomoura@nih.govBarronKarylMDkbarron@nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nAdenosine Deaminase DeficiencySynonyms: ADA Deficiency, ADA1 Deficiency, ADA-Related Immune Deficiency, Adenosine Deaminase 1 DeficiencyHershfieldMichaelMDProfessor of Medicine and BiochemistryDuke University Medical CenterDurham, North Carolinamichael.hershfield@duke.eduTarrantTeresaMDAssociate Professor of MedicineDuke University Medical CenterDurham, North Carolinateresa.tarrant@duke.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ADNP-</italic>Related Helsmoortel-Van der Aa SyndromeSynonyms: ADNP-Related Intellectual Disability and Autism Spectrum Disorder (ADNP-Related ID/ASD), ADNP Syndrome, Helsmoortel-Van der Aa Syndrome (HVDAS)HarutyunyanLusineDoctoral researcherDisability StudiesUniversity of AntwerpAntwerp, Belgiumlusine.harutyunyan@uantwerpen.beKooyR FrankPhDProfessor, Cognitive GeneticsDepartment of Medical GeneticsUniversity of AntwerpAntwerp, Belgiumfrank.kooy@uantwerpen.beD'IncalClaudio PeterPhDDoctoral researcherDepartment of Medical GeneticsUniversity of AntwerpAntwerp, Belgiumclaudio.dincal@uantwerpen.beVan DijckAnkeMD, PhDPostdoctoral Research Assistant, Disability studies University of AntwerpAntwerp, Belgiumanke.vandijck@uantwerpen.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAdult Refsum DiseaseSynonym: Classic Refsum DiseaseWaterhamHans RPhDh.r.waterham@amsterdamumc.nlWandersRonald JAPhDr.j.wanders@amsterdamumc.nlLeroyBart PMD, PhDbart.leroy@ugent.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">AFF4</italic>-Related CHOPS SyndromeIzumiKosukeMD, PhDDivision of Genetics and MetabolismDepartment of PediatricsUniversity of Texas Southwestern Medical CenterDallas, Texaskosuke.izumi@utsouthwestern.eduRaibleSaraMS, CGCPerelman School of MedicineUniversity of PennsylvaniaPhiladelphia, Pennsylvaniasarah.raible@pennmedicine.upenn.eduKrantzIanMDCohen Children’s Medical Center / Northwell HealthNew York, New Yorkikrantz@northwell.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">AFG3L2</italic>-Related Neurologic DisordersCoarelliGiuliaMD, PhDgiulia.coarelli@icm-institute.orgMourauxCharlotteMDcharlotte.mouraux@icm-institute.orgcharlotte.mouraux@chuliege.be\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAicardi-Goutières SyndromeCrowYanick JMBBS, BMedSci, MRCP, PhD\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAicardi SyndromeSuttonV ReidMDProfessor, Department of Molecular and Human GeneticsBaylor College of Medicine & Texas Children's HospitalHouston, Texasvrsutton@texaschildrens.orgVan den VeyverIgnatia BMDProfessor, Departments of Obstetrics and Gynecology and Molecular and Human GeneticsBaylor College of MedicineHouston, Texasiveyver@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">AIP</italic> Familial Isolated Pituitary AdenomasKorbonitsMártaMD, PhDDepartment of EndocrinologyBarts and the London School of MedicineQueen Mary University of LondonLondon, United Kingdomm.korbonits@qmul.ac.ukHernández-RamírezLaura CMD, PhDRed de Apoyo a la InvestigaciónCoordinación de la Investigación CientíficaUniversidad Nacional Autónoma de México e Instituto Nacional de Ciencias Médicas y Nutrición Salvador ZubiránMexico City, Mexicolaura.hernandez@cic.unam.mx\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAlagille SyndromeSynonyms: Arteriohepatic Dysplasia, Syndromic Bile Duct PaucitySpinnerNancy BPhDspinner@chop.eduLoomesKathleen MMDloomes@chop.eduKrantzIan DMDkrantz@chop.eduGilbertMelissa APhDgilbertma@chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAlexander DiseaseSrivastavaSiddharthMDDepartment of Neurology\nBoston Children's Hospital\nBoston, Massachusettssiddharth.srivastava@childrens.harvard.eduWaldmanAmyMD, MSCEDivision of Neurology, Children's Hospital of Philadelphia;\nDepartments of Neurology and Pediatrics\nPerelman School of Medicine\nUniversity of Pennsylvania\nPhiladelphia, Pennsylvaniawaldman@email.chop.eduNaiduSakkubaiMDKennedy Krieger Institute\nPediatric Neurology and Pediatrics\nJohns Hopkins University Medical Institutions\nBaltimore, Marylandnaidu@kennedykrieger.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAlkaptonuriaSynonym: AlcaptonuriaIntroneWendy JMDStaff Clinician, Office of the Clinical DirectorNational Human Genome Research InstituteNational Institutes of HealthBethesda, Marylandwintrone@nhgri.nih.govPerryMoniqueMDStaff Clinician, Rehabilitation MedicineClinical CenterNational Institutes of HealthBethesda, Marylandmperry@cc.nih.govChenMarcusMDStaff Clinician, National Heart, Lung, and Blood InstituteNational Institutes of HealthBethesda, Marylandchenmy@nhlbi.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ALK</italic>-Related Neuroblastic Tumor SusceptibilityGreengardEmily GMDUniversity of Minnesota Masonic Children's HospitalMinneapolis, Minnesotaemilyg@umn.eduPerrinoMelissa RMDSt Jude Children's Research HospitalMemphis, Tennesseemelissa.perrino@stjude.orgParkJulie RMDSeattle Children's HospitalSeattle, Washingtonjulie.park@stjude.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAllan-Herndon-Dudley SyndromeSynonyms: MCT8 Deficiency, MCT8-Specific Thyroid Hormone Cell-Membrane Transporter DeficiencySarretCatherineMD, PhDCentre de Compétence des Leucodystrophies et Leucoencéphalopathies de Cause RareCentre Hospitalier Universitaire de Clermont-FerrandClermont-Ferrand, Francecsarret@chu-clermontferrand.frOliver PetitIsabelleMDEndocrine UnitChildren's HospitalToulouse, Franceoliver.i@chu-toulouse.frTondutiDavideMD, PhDChild Neurology UnitV Buzzi Children's HospitalMilan, Italydavidetondu@hotmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAlpha-1 Antitrypsin DeficiencySynonyms: AAT Deficiency, A1AT Deficiency, AATD, Alpha-1 Antiprotease DeficiencyStollerJames KMD, MSRespiratory and Education InstitutesCleveland ClinicCleveland, Ohiostollej@ccf.orgHupertzVeraMDPediatric GastroenterologyPediatric InstituteCleveland ClinicCleveland, Ohiohupertv@ccf.orgAboussouanLoutfi SMDRespiratory InstituteCleveland ClinicCleveland, Ohioaboussl@ccf.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAlpha-MannosidosisSynonym: α-MannosidosisFiciciogluCanMD, PhDThe Children's Hospital of Philadelphia;Division of Human Genetics and MetabolismPerelman School of Medicine at the University of PennsylvaniaPhiladelphia, Pennsylvaniaficicioglu@chop.eduStepienKarolina MMD, PhDMark Holland Metabolic UnitSalford Royal NHS Foundation TrustSalford Care OrganisationPart of the Northern Care Alliance NHS GroupSalford, United Kingdomkarolina.stepien@nca.nhs.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAlpha-ThalassemiaTamaryHannahMDHematology-Oncology DepartmentSchneider Children's Medical Center of IsraelPetah Tiqva, Israelhtamary@tauex.tau.ac.ilDganyOrlyPhDFelsenstein Medical Research CenterPetah Tiqva, Israelodgani@clalit.org.il\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAlpha-Thalassemia X-Linked Intellectual Disability SyndromeSynonym: ATR-X SyndromeStevensonRoger EMD, FACMGClinical Genetics and CytogeneticsGreenwood Genetic CenterGreenwood, South Carolinares@ggc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ALPK1-</italic>Related Autoinflammatory DiseaseSynonym: ROSAH SyndromeKozyckiChristinaMD, MPHInnate Immune Activation UnitNational Institute of Allergy and Infectious DiseasesBethesda, Marylandchristina.kozycki@nih.govKastnerDanMD, PhDInflammatory Disease SectionNational Human Genome Research InstituteNational Institutes of HealthBethesda, Marylandkastnerd@mail.nih.govHurynLaryssaMDNational Eye InstituteNational Institutes of HealthBethesda, Marylandlaryssa.huryn@nih.govKodatiShilpaMDKellogg Eye CenterDepartment of OphthalmologyUniversity of MichiganAnn Arbor, Michiganshko@umich.eduWarnerBlake MDDS, PhD, MPHNational Institute of Dental and Craniofacial ResearchNational Institutes of Healthblake.warner@nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAlport SyndromeSynonyms: Familial Nephritis, Hereditary NephritisNozuKandaiMD, PhDkandainozu@gmail.comYamamuraTomohikoMD, PhDtomohiko@med.kobe-u.ac.jpHorinouchiTomokoMD, PhDtohori@med.kobe-u.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ALS2</italic>-Related DisorderOrrellRichard WBSc, MD, FRCPUniversity Department of Clinical NeurosciencesInstitute of NeurologyUniversity College LondonLondon, United Kingdomr.orrell@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAlström SyndromePaiseyRichard BMD, FRCPrichard.paisey@nhs.netSteedsRickMDrick.steeds@uhb.nhs.ukBarrettTimMDt.g.barrett@bham.ac.ukWilliamsDeniseMDdenise.williams21@nhsnetdenise.williams@bwhct.nhs.ukGeberhiwotTarekegnMDtarekegn.geberhiwot@uhb.nhs.ukt.g.hiwot@bham.ac.ukGunay-AygunMeralMDmgunaya1@jhu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nAlzheimer Disease OverviewBirdThomas DSeattle VA Medical CenterDepartments of Neurology and MedicineUniversity of WashingtonSeattle, Washingtontomnroz@uw.edu\n\nSummary\n\n Clinical Characteristics of Alzheimer Disease\n\n Causes of Alzheimer Disease\n\n Evaluation Strategies to Identify the Genetic Cause of Alzheimer Disease in a Proband\n\n Inform Genetic Counseling of Family Members of an Individual with Alzheimer Disease\n\nResources\n\nChapter Notes\n\nReferences\n\nAmyotrophic Lateral Sclerosis OverviewSynonym: Lou Gehrig DiseaseSiddiqueNailahRN, MSNDivision of Neuromuscular MedicineDavee Department of Neurology and Clinical NeurosciencesNorthwestern University Feinberg School of MedicineChicago, Illinoisnsiddique@northwestern.eduSiddiqueTeepuMD, DSc (hc)Division of Neuromuscular MedicineDavee Department of Neurology and Clinical Neurosciences;Department of Cell and Molecular BiologyNorthwestern University Feinberg School of MedicineChicago, Illinoist-siddique@northwestern.edu\n\nSummary\n\n Clinical Characteristics of ALS\n\n Genetic Causes of ALS\n\n Evaluation Strategies to Identify the Genetic Cause of ALS in a Proband\n\n Management of ALS\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nAndersen-Tawil SyndromeSynonym: Long QT Syndrome Type 7 (LQTS Type 7)VeerapandiyanAravindhanMBBSaravindhan_veerapandiyan@urmc.rochester.eduStatlandJeffrey MMDjstatland@kumc.eduTawilRabiMDrabi_tawil@urmc.rochester.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nAndrogen Insensitivity SyndromeSynonym: Testicular FeminizationGottliebBrucePhDbruce.gottlieb@mcgill.caTrifiroMark AMDmark.trifiro@mcgill.ca\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAngelman SyndromeDagliAditi IMDMedical GeneticsOrlando Health Arnold Palmer HospitalOrlando, Floridaaditidagli@gmail.comMathewsJenniferMS, CGCDivision of Genetics and MetabolismUniversity of North Carolina at Chapel HillChapel Hill, North Carolinamuelljm@email.unc.eduWilliamsCharles AMDDivision of Genetics and MetabolismDepartment of PediatricsUniversity of Florida College of MedicineGainesville, Floridawillicx@peds.ufl.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ANKRD11</italic>-Related KBG SyndromeSynonym: ANKRD11-Related Neurodevelopmental DisorderMorel SwolsDaynaMS, CGCdmorel@med.miami.eduTekinMustafaMDmtekin@med.miami.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ANKRD17</italic>-Related Neurodevelopmental SyndromeSynonym: Chopra-Amiel-Gordon Syndrome (CAGS)SvedenAbigailMS, CGCabigail.sveden@childrens.harvard.eduGordonChristopher TPhDchris.gordon@inserm.frAmielJeanneMD, PhDjeanne.amiel@inserm.frChopraMayaMBBS, FRACPmaya.chopra@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ANKRD26</italic>-Related ThrombocytopeniaSynonym: Thrombocytopenia 2 (THC2)Perez BoteroJulianaMDjuliana.perezbotero@bcw.eduDuganStefanie NMS, CGCstefanie.dugan@ bcw.eduAndersonMatthew WMD, PhDmatthew.anderson@ bcw.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">ANO5</italic>-Related Muscle DiseaseSynonym: AnoctaminopathyPalmioJohannaMD, PhDjohanna.palmio@tuni.fiPenttiläSiniPhDsini.penttila@hus.fiJokelaManuMD, PhDmejoke@utu.fi\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAP-4-Associated Hereditary Spastic ParaplegiaSynonyms: Adaptor Protein Complex 4 Deficiency (AP-4 Deficiency), AP-4-Associated HSP, AP-4 Deficiency SyndromeAlecuJulianMD, PhDjulian.alecu@childrens.harvard.eduSchierbaumLucaMD, PhDluca.schierbaum@childrens.harvard.eduEbrahimi-FakhariDariusMD, PhDdarius.ebrahimi-fakhari@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">APC</italic>-Associated Polyposis ConditionsYenTimothyMDtimothy.yen@cuanschutz.eduStanichPeter PMDpeter.stanich@osumc.eduAxellLisenMS, CGClisen.axell@cuanschutz.eduPatelSwati GMD, MSswati.patel@cuanschutz.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nApert SyndromeSynonym: Acrocephalosyndactyly Type IWengerTara LMD, PhDtara.wenger@seattlechildrens.orgHingAnne VMDanne.hing@seattlechildrens.orgEvansKelly NMDkelly.evans@seattlechildrens.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">APOB</italic>-Related Familial HypobetalipoproteinemiaBurnettJohn RMB ChB, MD, PhD, FRCPAjohn.burnett@health.wa.gov.auHooperAmanda JPhDamanda.hooper@health.wa.gov.auHegeleRobert AMD, FRCPC, FACPhegele@robarts.ca\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nArginase DeficiencySynonyms: ARG1 Deficiency, Arginase-1 Deficiency, HyperargininemiaSunAngelaMDSeattle Children's Hospital;University of WashingtonSeattle, Washingtonangela.sun@seattlechildrens.orgCrombezEric AMDUltragenyx Pharmaceutical IncNovato, Californiaecrombez@ultragenyx.comWongDerekMDUniversity of California Los Angeles Medical CenterLos Angeles, Californiadawong@mednet.ucla.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nArgininosuccinate Lyase DeficiencySynonyms: Argininosuccinic Acid Lyase Deficiency (ASLD), Argininosuccinic Aciduria (ASA)NagamaniSandesh CSMBBS, MDnagamani@bcm.eduBurrageLindsay CMD, PhDburrage@bcm.eduLeeBrendanMD, PhDblee@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ARID1B</italic>-Related DisorderVerganoSamantha AMDsamantha.vergano@chkd.orgvan der SluijsPleuntje JMScp.j.van_der_sluijs@lumc.nlSantenGijsMD, PhDsanten@lumc.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAromatic L-Amino Acid Decarboxylase DeficiencySynonym: AADC DeficiencyBlauNenadPhDDivision of MetabolismUniversity Children's Hospital ZurichZurich, Switzerlandnenad.blau@kispi.uzh.chPearsonToni SMD, MBBSDepartments of Pediatrics and NeurologyNationwide Children's Hospital;Ohio State University College of MedicineColumbus, Ohiotoni.pearson@nationwidechildrens.orgKurianManju AMRCP, PhDDevelopmental NeurosciencesZayed Centre for Research into Rare Disease in ChildrenUCL GOS Institute of Child Health;Department of NeurologyGreat Ormond Street HospitalLondon, United Kingdommanju.kurian@ucl.ac.ukElseaSarah HPhD, FACMGDepartment. of Molecular & Human GeneticsBaylor College of MedicineHouston, Texassarah.elsea@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nArrhythmogenic Right Ventricular Cardiomyopathy OverviewMcNallyElizabethMD, PhDelizabeth.mcnally@northwestern.eduMacLeodHeatherMShmacleodgc@gmail.comDellefave-CastilloLisaMS, CGClisa.m.castillo@northwestern.edu\n\nSummary\n\n Clinical Characteristics of Arrhythmogenic Right Ventricular Cardiomyopathy\n\n Genetic Causes of Arrhythmogenic Right Ventricular Cardiomyopathy\n\n Evaluation Strategy to Identify the Genetic Cause of Arrhythmogenic Right Ventricular Cardiomyopathy\n\n Management of Arrhythmogenic Right Ventricular Cardiomyopathy\n\n Genetic Risk Assessment and Evaluation of Relatives At-Risk\n\nResources\n\nChapter Notes\n\nReferences\n\nARSACSSynonyms: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, Autosomal Recessive Spastic Ataxia Type 6, ATX/HSP-SACSVermeerSaschaMD, PhDsascha.vermeer@uzleuven.bevan de WarrenburgBart PMD, PhDbart.vandewarrenburg@radboudumc.nlKamsteegErik-JanPhDerik-jan.kamsteeg@radboudumc.nlBraisBernardMD, PhDbernard.brais@mcgill.caSynofzikMatthisMDmatthis.synofzik@uni-tuebingen.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nArterial Tortuosity SyndromeCallewaertBertMD, PhDbert.callewaert@ugent.beDe PaepeAnneMD, PhDanne.depaepe@ugent.beCouckePaulMD, PhDpaul.coucke@ugent.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nArylsulfatase A DeficiencySynonyms: ARSA Deficiency, Metachromatic LeukodystrophyGomez-OspinaNataliaMD, PhDAssistant ProfessorDepartment of PediatricsDivisions of Medical Genetics and Stem Cell TransplantationStanford UniversityStanford, Californiagomezosp@stanford.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ASAH1</italic>-Related DisordersDymentDavid ADPhil, MDChildren's Hospital of Eastern Ontario Research InstituteDepartment of Biochemistry, Microbiology, and ImmunologyUniversity of OttawaOttawa, Ontario, Canadaddyment@cheo.on.caBennettSteffany ALPhDDepartment of Biochemistry, Microbiology, and ImmunologyUniversity of OttawaOttawa, Ontario, Canadasteffanyann.bennett@uottawa.caMedinJeffrey APhDDepartments of Pediatrics and BiochemistryMedical College of WisconsinMilwaukee, Wisconsinjmedin@mcw.eduLevadeThierryMD, PhDLaboratoire de Biochimie MétaboliqueCHU ToulouseINSERM U1037, Centre de Recherches en Cancérologie de ToulouseUniversité Paul SabatierToulouse, Francethierry.levade@inserm.fr\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAsparagine Synthetase DeficiencySynonym: ASNS DeficiencyAlfadhelMajidMD, HHSc, SSC-Ped, ABHS(CH), FCCMGGenetics Division, Department of PediatricsKing Saud Bin Abdulaziz University for Health SciencesKing Abdulaziz Medical CityRiyadh, Saudi Arabiadralfadhelm@gmail.comEl-HattabAyman WMD, FAAP, FACMGAssociate Professor, Department of Clinical SciencesCollege of MedicineUniversity of SharjahSharjah, United Arab Emirateselhattabaw@yahoo.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAspartylglucosaminuriaSynonyms: AGA Deficiency, Aspartylglucosaminidase Deficiency, Aspartylglycosaminuria, Glycoasparaginase Deficiency, Glycosylasparaginase DeficiencyGoodspeedKimberlyMD, MSCSDepartments of Pediatrics, Neurology, and PsychiatryUniversity of Texas Southwestern Medical CenterDallas, Texaskimberly.goodspeed@utsouthwestern.eduChenXinPhDDepartment of PediatricsUniversity of Texas Southwestern Medical CenterDallas, Texasxin.chen@utsouthwestern.eduTchanMichelMBBS, PhD, BMedSc, FRACPDepartment of Genetic MedicineWestmead HospitalSydney, Australiamichel.tchan@health.nsw.gov.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ASPM</italic> Primary MicrocephalySynonyms: ASPM Microcephalia Vera, Microcephaly Primary Hereditary 5 (MCPH5)VerloesAlainMD, PhDalain.verloes@aphp.frDrunatSéverinePharmD, PhDseverine.drunat@aphp.frPassemardSandrineMD, PhDsandrine.passemard@aphp.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ASXL3</italic>-Related DisorderSynonym: Bainbridge-Ropers Syndrome (BRPS)BalasubramanianMeenaMBBS, DCH, FRCPCH, MDSheffield Children's NHS Foundation TrustUniversity of SheffieldSheffield, United Kingdommeena.balasubramanian@nhs.netSchirwaniSchaidaMBChB, MSc, MRCPSheffield Children's NHS Foundation TrustSheffield, United Kingdomschaida.schirwani@nhs.net\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAtaxia-TelangiectasiaVeenhuisStefanieMDDepartment of PediatricsAmalia Children’s HospitalRadboud University Medical CenterNijmegen, the Netherlandsstefanie.veenhuis@radboudumc.nlvan OsNienkeMD, PhDDepartment of NeurologyDonders Institute for Brain, Cognition and Behaviour;Radboud University Medical CenterNijmegen, the Netherlandsnienke.vanos@radboudumc.nlWeemaesCorryMD, PhDAmalia Children's HospitalRadboud University Medical CenterNijmegen, the Netherlandscorry.weemaes@radboudumc.nlKamsteegErik-JanMD, PhDDepartment of Human GeneticsRadboud University Medical CenterNijmegen, the Netherlandserik-jan.kamsteeg@radboudumc.nlWillemsenMichèlMD, PhDDepartment of Pediatric NeurologyDonders Institute for Brain, Cognition and Behaviour;Amalia Children's HospitalRadboud University Medical CenterNijmegen, the Netherlandsmichel.willemsen@radboudumc.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAtaxia with Oculomotor Apraxia Type 2Synonym: AOA2MoreiraMaria-CeuMSc, PhDProfessor of Molecular Biology and Geneticsmceums@hotmail.frKoenigMichelMD, PhDLaboratoire de Génétique de Maladies RaresInstitut Universitaire de Recherche CliniqueUniversité de MontpellierMontpellier, Francemichel.koenig@inserm.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAtaxia with Vitamin E DeficiencySynonyms: Ataxia with Isolated Vitamin E Deficiency, AVEDSchuelkeMarkusMDDepartment of NeuropediatricsCharité & NeuroCure Clinical Research CenterCharité - Universitätsmedizin BerlinBerlin, Germanymarkus.schuelke@charite.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ATM</italic>-Related Cancer PredispositionSchonKatherine RoseMD, PhDDepartment of Genomic MedicineNational Institute for Health ResearchCambridge Biomedical Research CentreUniversity of CambridgeCambridge, United Kingdomks339@cam.ac.ukPalTuyaMDDepartment of MedicineVanderbilt University Medical CenterVanderbilt-Ingram Cancer CenterNashville, Tennesseetuya.pal@vumc.orgStewartDouglas RMDClinical Genetics BranchDivision of Cancer Epidemiology and GeneticsNational Cancer InstituteRockville, Marylanddrstewart@mail.nih.govTischkowitzMarcMD, PhDDepartment of Genomic MedicineNational Institute for Health ResearchCambridge Biomedical Research CentreUniversity of CambridgeCambridge, United Kingdommdt33@cam.ac.ukHansonHelenMDPeninsula Clinical GeneticsRoyal Devon University Healthcare NHS Foundation Trust;Department of Clinical and Biomedical SciencesUniversity of Exeter Medical SchoolExeter, United Kingdomhelen.hanson6@nhs.net\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ATN1-</italic>Related Neurodevelopmental DisorderSynonyms: ATN1-Related Neurodevelopmental Condition; CHEDDA (Congenital Hypotonia, Epilepsy, Developmental Delay, Digit Abnormalities)WhittonChloeBMed, MDwhittonchloe@gmail.comchloe.whitton@health.nsw.gov.auPalmerElizabethPhD, MBBS, FRACPelizabeth.palmer@unsw.edu.auAlkurayaFowzanMD, ABP, ABMGGfalkuraya@kfshrc.edu.sa\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Conditions\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ATP1A3-</italic>Related DisorderBrashearAllisonMDVice President for Health Sciences;Dean, Jacobs School of Medicine and Biomedical Sciences;Professor, Neurology;University at BuffaloBuffalo, New Yorkbrashear@buffalo.eduSweadnerKathleen JPhDAssociate Professor, Cellular and Molecular PhysiologyDepartment of NeurosurgeryMassachusetts General HospitalBoston, Massachusettsksweadner@mgh.harvard.eduHaqIhtshamMDProfessor, Department of NeurologyUniversity of Miami Miller School of MedicineMiami, Floridaihaq@med.miami.eduNapoliEleonoraPhDDepartment of NeurologySchool of MedicineUniversity of California, DavisDavis, Californiaenapoli@ucdavis.eduOzeliusLauriePhDAssociate Neuroscientist, Department of NeurologyMassachusetts General HospitalBoston, Massachusettslaurie.ozelius@mgh.harvard.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ATP6V0A2</italic>-Related Cutis LaxaSynonyms: ATP6V0A2-CDG, Autosomal Recessive Cutis Laxa Type 2A (ARCL2A)Van MaldergemLionelMD, PhDCentre de génétique humaineUniversité de Franche-ComtéBesançon, Francevmald@skypro.beDobynsWilliamMDSeattle Children's Research InstituteSeattle, Washingtonwbd@uw.eduKornakUweMD, PhDInstitut für HumangenetikUniversitätsmedizin GöttingenGöttingen, Germanyuwe.kornak@med.uni-goettingen.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ATP7A</italic>-Related Copper Transport DisordersKalerStephen GMD, MPHCAPT, US Public Health Service (Ret)Professor of Pediatrics and GeneticsThe Ohio State University College of Medicine;Center for Gene TherapyAbigail Wexner Research InstituteNationwide Children’s HospitalColumbus, Ohiostephen.kaler@nationwidechildrens.orgDiStasioAndrew TPhDCenter for Gene TherapyAbigail Wexner Research InstituteNationwide Children’s HospitalColumbus, Ohioandrew.distasio@nationwidechildrens.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nATP8B1 DeficiencySynonym: FIC1 DeficiencyBullLaura NPhDLiver Center Laboratory and Institute for Human GeneticsDepartment of MedicineUniversity of California, San FranciscoSan Francisco, Californialaura.bull@ucsf.eduMorottiRaffaellaMDDepartment of PathologyYale School of MedicineNew Haven, Connecticutraffaella.morotti@yale.eduSquiresJames EMD, MSUPMC Children's Hospital of PittsburghDepartment of Pediatric Gastroenterology and HepatologyPittsburgh, Pennsylvaniajames.squires2@chp.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAu-Kline SyndromeSynonyms: HNRNPK-Related Neurodevelopmental Disorder, Au-Kline-Okamoto Syndrome, Okamoto SyndromeAuPing-Yee BillieMD, PhD, FRCPC, FCCMGbillie.au@ahs.caMcNivenVandaMD, MSc, FRCPCmcnivenv@mcmaster.caPhillipsLindsayPhDlindsay.phillips@ahs.caInnesA MicheilMD, FRCPC, FCCMGmicheil.innes@ahs.caKlineAntonie DMD, FACMG, FAAPakline@gbmc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutoimmune Lymphoproliferative SyndromeSynonym: ALPSBleesingJack JHMD, PhDProfessor of Pediatrics, Division of Bone Marrow Transplantation & Immune DeficiencyCincinnati Children's HospitalCincinnati, Ohiojack.bleesing@cchmc.orgNagarajChinmayee BMS, CGCGenetic Counselor, Division of Human GeneticsCincinnati Children's HospitalCincinnati, Ohiochinmayee.bhimarao@cchmc.orgZhangKejianMD, MBAAssociate Professor of Pediatrics, Division of Human GeneticsCincinnati Children's HospitalCincinnati, Ohiokejian.zhang@cchmc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutosomal Dominant Craniometaphyseal DysplasiaReichenbergerErnstPhDProfessor, Department of Regenerative Medicine and Skeletal DevelopmentUConn Health (UCH)Farmington, Connecticutreichenberger@uchc.eduChenI-PingDDS, MS, PhDProfessor, Department of EndodontologyUConn Health (UCH)Farmington, Connecticutipchen@uchc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutosomal Dominant Epilepsy with Auditory FeaturesSynonyms: ADEAF, Autosomal Dominant Lateral Temporal Lobe Epilepsy, Autosomal Dominant Partial Epilepsy with Auditory FeaturesMichelucciRobertoMD, PhDroberto.michelucci@isnb.itPasiniElenaMDelena.pasini@isnb.itDazzoEmanuelaPhDemanuela.dazzo@cnr.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutosomal Dominant Robinow SyndromeSynonym: Fetal Face SyndromeRoifmanMaianMDDivision of Clinical and Metabolic GeneticsDepartment of PaediatricsThe Hospital for Sick Children;Prenatal Diagnosis and Medical Genetics ProgramDepartment of Obstetrics and GynecologyMount Sinai Hospital;University of TorontoToronto, Canadamaian.roifman@gmail.comBrunnerHanMDDepartment of Human GeneticsRadboud University Medical CenterNijmegen, the Netherlandshan.brunner@radboudumc.nlLohrJamieMDDivision of Pediatric CardiologyAdult Congenital and Cardiovascular Genetics ProgramUniversity of Minnesota Amplatz Children's HospitalMinneapolis, Minnesotalohrx003@umn.eduMazzeuJulianaPhDDivision of Clinical MedicineFaculty of MedicineUniversity of BrasíliaBrasília, Braziljulianamazzeu@pq.cnpq.brChitayatDavidMDPrenatal Diagnosis and Medical Genetics ProgramDepartment of Obstetrics and GynecologyMount Sinai Hospital;Division of Clinical and Metabolic GeneticsDepartment of PaediatricsThe Hospital for Sick Children;University of TorontoToronto, Canadadchitayat@mtsinai.on.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) EpilepsySynonym: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE), ADSHEKurahashiHirokazuMD, PhDAichi Medical UniversityNagakute, Japankurahashi.hirokazu.736@mail.aichi-med-u.ac.jpHiroseShinichiMD, PhDFukuoka UniversityFukuoka, Japanhirose@fukuoka-u.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutosomal Dominant <italic toggle=\"yes\">TRPV4-</italic>Related DisordersMcCrayBrett AMD, PhDDepartment of NeurologyUniversity of Michigan Medical SchoolAnn Arbor, Michiganbmccray@med.umich.eduSchindlerAliceMS, CGCNational Institute of Neurological Disorders and Stroke, Neurogenetics BranchNational Institutes of HealthBethesda, Marylandschindlerab@mail.nih.govHoover-FongJulie EMD, PhDDepartment of Genetic MedicineJohns Hopkins University School of MedicineBaltimore, Marylandjhoover2@jhmi.eduSumnerCharlotte JMDDepartments of Neurology, Neuroscience, and Genetic MedicineJohns Hopkins University School of MedicineBaltimore, Marylandcsumner1@jhmi.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutosomal Dominant Tubulointerstitial Kidney Disease – <italic toggle=\"yes\">MUC1</italic>Synonyms: ADTKD-MUC1, Medullary Cystic Kidney Disease Type 1 (MCKD1), MUC1 Kidney Disease (MKD)BleyerAnthony JMD, MSableyer@wakehealth.eduŽivnáMartinaPhDmzivna@lf1.cuni.czKiddKendrahMSkkidd@wakehealth.eduKmochStanislavPhDskmoch@lf1.cuni.cz\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutosomal Dominant Tubulointerstitial Kidney Disease – <italic toggle=\"yes\">REN</italic>Synonyms: ADTKD-REN, Familial Juvenile Hyperuricemic Nephropathy Type 2 (FJHN2)ŽivnáMartinaPhDmzivna@lf1.cuni.czKiddKendrahMSkkidd@wakehealth.eduKmochStanislavPhDskmoch@lf1.cuni.czBleyerAnthony JMD, MSableyer@wakehealth.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutosomal Dominant Tubulointerstitial Kidney Disease – <italic toggle=\"yes\">UMOD</italic>Synonyms: ADTKD-UMOD, Uromodulin Kidney DiseaseBleyerAnthony JMD, MSSection on Nephrology\nWake Forest University School of Medicine\nWinston-Salem, North Carolinaableyer@wakehealth.eduKiddKendrahMSSection on Nephrology\nWake Forest University School of Medicine\nWinston-Salem, North Carolinakkidd@wakehealth.eduŽivnáMartinaPhDResearch Unit of Rare Diseases\nDepartment of Paediatrics and Inherited Metabolic Disorders\nFirst Faculty of Medicine\nCharles University\nPrague, Czech Republicmzivna@lf1.cuni.czKmochStanislavPhDResearch Unit of Rare Diseases\nDepartment of Paediatrics and Inherited Metabolic Disorders\nFirst Faculty of Medicine\nCharles University\nPrague, Czech Republicskmoch@lf1.cuni.cz\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutosomal Recessive Congenital IchthyosisRichardGabrieleMD, FACMGMedical Director, GeneDx, IncGaithersburg, Marylandgrichard@genedx.com\n\nSummary\n\n Clinical Characteristics of Autosomal Recessive Congenital Ichthyosis\n\n Genetic Causes of Autosomal Recessive Congenital Ichthyosis\n\n Differential Diagnosis of Autosomal Recessive Congenital Ichthyosis\n\n Evaluation Strategies to Identify the Genetic Cause of Autosomal Recessive Congenital Ichthyosis in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nAutosomal Recessive Polycystic Kidney Disease – <italic toggle=\"yes\">PKHD1</italic>Synonym: ARPKD-PKHD1BurgmaierKathrinMDkathrin.burgmaier@uk-koeln.deGimpelCharlotteMDcharlotte.gimpel@glkn.deSchaeferFranzMDfranz.schaefer@med.uni-heidelberg.deLiebauMaxMDmax.liebau@uk-koeln.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAutosomal Recessive <italic toggle=\"yes\">RPE65</italic>-Related Retinal DegenerationSynonyms: Autosomal Recessive RPE65-RD, RPE65 Mutation-Associated Retinal Degeneration (RPE65-IRD)KoritalaBrooke ABS, BAbkoritala@rfsw.orgPennesiMarkMD, PhDpennesi@retinafoundation.org\n\nSummary\n\nScope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nAymé-Gripp SyndromeAmudhavalliShivarajan ManickavasagamMDsamudhavalli@cmh.eduGadeaRandiMSrngadea@cmh.eduGrippKarenMDkgripp@nemours.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBachmann-Bupp SyndromeSynonym: ODC1-Related Neurodevelopmental DisorderBuppCalebMD, FACMGcaleb.bupp@spectrumhealth.orgMichaelJulianneMS, LCGCjulianne.michael@spectrumhealth.orgVanSickleElizabethMSelizabeth.vansickle@spectrumhealth.orgRajasekaranSurenderMD, MPHsurender.rajasekaran@spectrumhealth.orgBachmannAndré StephanMS, PHDbachma26@msu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBaller-Gerold SyndromeVan MaldergemLionelMD, PhDCentre de Génétique HumaineUniversité de Franche-ComtéBesançon, Francevmald@skypro.bePiardJulietteMDClinical Geneticist, Pôle Biologie et Anatomie PathologiqueCHRU de Besançon – Hôpital Saint-JacquesBesançon, Francejpiard@chu-besancon.frLarizzaLidiaMDResearch Director, Laboratory of Medical Cytogenetics and GeneticsIRCSS Istituto Auxologico ItalianoMilan, Italyl.larizza@auxologico.itWangLisa LMDAssociate Professor, Division of Hematology/OncologyDepartment of PediatricsTexas Children's HospitalBaylor College of MedicineHouston, Texasllwang@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">BAP1</italic> Tumor Predisposition SyndromeSynonyms: BAP1 Cancer Syndrome; Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms (COMMON Syndrome)PilarskiRobertMS, LGC, MSWrpilarski@ambrygen.comByrneLindseyMS, CGClindsey.byrne@osumc.eduCarloMaria IMDcarlom@mskcc.orgHansonHelenMDhelen.hanson6@nhs.netCebullaColleenMD, PhDcolleen.cebulla@osumc.eduAbdel-RahmanMohamedMD, PhDmohamed.abdel-rahman@osumc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBaraitser-Winter Cerebrofrontofacial SyndromeVerloesAlainMD, PhDUniversité Paris Cité;Department of GeneticsAPHP-Hôpital Robert DebréParis, Francealain.verloes@aphp.frDrunatSéverinePharmD, PhDDepartment of GeneticsAPHP-Hôpital Robert DebréParis, Franceseverine.drunat@aphp.frPilzDanielaMD, PhDInstitute of Medical GeneticsUniversity Hospital of WalesCardiff, United Kingdompilzdt@cf.ac.ukDi DonatoNataliyaMD, PhDInstitut für Klinische GenetikUniversitätsklinikum Carl Gustav CarusDresden, Germanynataliya.didonato@uniklinikum-dresden.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBardet-Biedl Syndrome OverviewForsythRaeLynnMDrforsyt2@jhmi.eduGunay-AygunMeralMDmgunaya1@jhmi.edu\n\nSummary\n\n Clinical Characteristics of Bardet-Biedl Syndrome\n\n Causes of Bardet-Biedl Syndrome\n\n Evaluation Strategies to Identify the Genetic Cause of Bardet-Biedl Syndrome in a Proband\n\n Management of Bardet-Biedl Syndrome\n\n Genetic Counseling of Family Members of an Individual with Bardet-Biedl Syndrome\n\nResources\n\nChapter Notes\n\nReferences\n\nBarth SyndromeSynonyms: 3-Methylglutaconic Aciduria Type II, BTHS, TAFAZZIN Deficiency, TAZ DeficiencyFerreiraCarlosMDUnit on Skeletal GenomicsEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institutes of HealthBethesda, Marylandferreiracr@mail.nih.govPierreGermaineMBBS, MRCPCH, MScPediatric Metabolic ConsultantBristol Royal Hospital for ChildrenBristol, United Kingdomgermaine.pierre@uhbw.nhs.ukThompsonReidMDAssociate Professor, Pediatric CardiologyJohns Hopkins UniversityBaltimore, Marylandthompson@jhmi.eduVernonHilaryMD, PhDProfessor, Departments of Genetic Medicine and PediatricsJohns Hopkins UniversityBaltimore, Marylandhvernon1@jhmi.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">BCL11A</italic>-Related Intellectual DisabilitySynonyms: Dias-Logan Syndrome, Intellectual Developmental Disorder with Persistence of Fetal HemoglobinPeronAngelaMDangela.peron@unimi.itBradburyKimberleyBA, MBBS, MAkimberley.bradbury@gosh.nhs.ukViskochilDavid HMD, PhDdave.viskochil@hsc.utah.eduDiasCristinaMD, PhDcristina.dias@kcl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBeckwith-Wiedemann SyndromeSynonyms: Wiedemann-Beckwith Syndrome, Beckwith-Wiedemann Spectrum (BWSp)ShumanCherylMS, CGCProfessor, Molecular GeneticsUniversity of TorontoToronto, Ontariocheryl.shuman@utoronto.caKalishJennifer MMD, PhDAttending PhysicianResearch ScientistChildren's Hospital of Philadelphia;Assistant Professor of Pediatrics and GeneticsPerelman School of Medicine at the University of PennsylvaniaPhiladelphia, Pennsylvaniakalishj@chop.eduWeksbergRosannaMD, PhD, FRCPC, FCCMG, FACMGGeneticist, Clinical and Metabolic GeneticsSenior Associate Scientist, Research InstituteThe Hospital for Sick Children;Professor, Department of PediatricsUniversity of TorontoToronto, Ontariorweksb@sickkids.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBestrophinopathiesMacDonaldIan MMDCM, MScDepartment of Ophthalmology\nUniversity of AlbertaEdmonton, Alberta, Canadamacdonal@ualberta.caLeeThomasMD, MScDepartment of Ophthalmology\nUniversity of OttawaOttawa, Ontario, Canadathomaslee@toh.on.caLawrenceJessicaMScAlberta Health ServicesEdmonton, Alberta, Canadajessica.lawrence2@ahs.ca\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBeta-MannosidosisSynonyms: β-Mannosidosis, Beta-Mannosidase DeficiencyMartin RiosAngelaMDStead Family Department of PediatricsUniversity of IowaIowa City, Iowaangela-martin@uiowa.eduKimonisVirginiaMDProfessor of Pediatrics, Division of Genetics and Genomic MedicineUniversity of California Irvine Medical CenterOrange, Californiavkimonis@hs.uci.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBeta-Propeller Protein-Associated NeurodegenerationSynonyms: BPAN, Neurodegeneration with Brain Iron Accumulation 5 (NBIA5)GregoryAllisonMSgregorya@ohsu.eduKurianManju APhDmanju.kurian@ucl.ac.ukHaackTobiasMDtobias.haack@helmholtz-muenchen.deHayflickSusan JMDhayflick@ohsu.eduHogarthPenelopeMDhogarthp@ohsu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBeta-ThalassemiaSynonyms: Cooley's Anemia, Mediterranean AnemiaLangerArielle LMD, MPHDirector, Thalassemia ProgramDivision of HematologyBrigham and Women's HospitalBoston, Massachusettsalanger@bwh.harvard.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBietti Crystalline DystrophySynonyms: Bietti Crystalline Corneoretinal Dystrophy, Bietti Crystalline RetinopathyVargasMauricioMD, PhDvargasma@ohsu.eduMitchellAmandaMS, CGCmitcheam@ohsu.eduYangPaulMD, PhDyangp@ohsu.eduWeleberRichardMD, DABMG, FACMGweleberr@ohsu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nBiotinidase DeficiencySynonym: Late-Onset Multiple Carboxylase DeficiencyWolfBarryMD, PhDbarrywolf1@comcast.net\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBiotin-Thiamine-Responsive Basal Ganglia DiseaseSynonyms: Biotin-Responsive Basal Ganglia Disease (BBGD), BTBGD, BTRBGD, Thiamine Metabolism Dysfunction Syndrome 2, Thiamine Transporter-2 DeficiencyTabarkiBrahimMDbtabarki@hotmail.comAl-HashemAmalMDmalhashema@moh.gov.saOrtigoza-EscobarJuan DaríoMD, PhDjuandario.ortigoza@sjd.esAlsharhanHindMDhind.alsharhan@ku.edu.kwAlfadhelMajidMD, MHSc, FCCMGdralfadhelm@gmail.com\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBirt-Hogg-Dubé SyndromeSynonym: Hornstein-Knickenberg SyndromeSattlerElke CMDDepartment of Dermatology and AllergologyUniversity HospitalLMU MunichMunich, Germanyelke.sattler@med.uni-muenchen.deSteinleinOrtrud KMDInstitute of Human GeneticsUniversity HospitalLMU MunichMunich, Germanyortrud.steinlein@med.uni-muenchen.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBlepharophimosis, Ptosis, and Epicanthus Inversus SyndromeSynonyms: Blepharophimosis Syndrome, BPESMattonCharlotteMSccharlotte.matton@ugent.beThomaesArnaudBScarnaud.thomaes@ugent.beCoolsMartineMD, PhDmartine.cools@ugent.beVerdinHannahMSc, PhDhannah.verdin@ugent.beDe BaereElfrideMD, PhDelfride.debaere@ugent.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBloom SyndromeLangerKatherineBAkjl4002@med.cornell.eduCunniffChristopher MMD, FACMGcmc9039@med.cornell.eduKucineNicoleMD, MSnik9015@med.cornell.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBohring-Opitz SyndromeSynonym: Oberklaid-Danks SyndromeRussellBiancaMDCincinnati Children's HospitalCincinnati, Ohiobianca.russell@cchmc.orgTanWen-HannBMBSBoston Children's HospitalBoston, Massachusettswen-hann.tan@childrens.harvard.eduGrahamJohn MJrMD, ScDCedars Sinai Medical Center Department of PediatricsHarbor-UCLA Medical CenterEmeritus Professor of Pediatrics, David Geffen School of Medicine at UCLALos Angeles, Californiajohn.graham@cshs.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBranchiooculofacial SyndromeSynonym: BOF SyndromeHaldeman-EnglertChad RMDCone HealthGreensboro, North Carolinachad.haldemanenglert@conehealth.comLinAngela EMD, FAAP, FACMGGenetics UnitMassachusetts General Hospital for ChildrenBoston, Massachusettslin.angela@mgh.harvard.eduMilunskyJeff MMD, FACMGDirector, Clinical GeneticsSenior Director, Molecular GeneticsCo-Director, Center for Human Genetics, IncCambridge, Massachusettsjmilunsky@chginc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBranchiootorenal Spectrum DisorderSmithRichard JHMDDirector, Molecular Otolaryngology and Renal Research LaboratoriesDirector, Iowa Institute of Human GeneticsSterba Hearing Research Professor of OtolaryngologyProfessor of Otolaryngology, Pediatrics, and Internal Medicine, Division of NephrologyCarver College of MedicineUniversity of IowaIowa City, Iowarichard-smith@uiowa.eduAzaiezHelaPhDAssistant Professor, Department of Medical & Molecular GeneticsUniversity of Indiana School of MedicineIndianapolis, Indianahazaiez@iu.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">BRCA1-</italic> and <italic toggle=\"yes\">BRCA2</italic>-Associated Hereditary Breast and Ovarian CancerSynonym: BRCA1- and BRCA2-Associated HBOCPetrucelliNancieMSWayne State University School of Medicine/Detroit Medical Center;Cancer Genetic Counseling ServiceKarmanos Cancer InstituteDetroit, Michiganpetrucel@karmanos.orgDalyMary BMD, PhDChair, Department of Clinical GeneticsFox Chase Cancer CenterPhiladelphia, Pennsylvaniamary.daly@fccc.eduPalTuyaMDVanderbilt-Ingram Cancer CenterNashville, Tennesseetuya.pal@vumc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBrugada SyndromeSynonym: Sudden Unexpected Nocturnal Death SyndromeBrugadaRamonMD, PhDGirona Institute of Biomedical Research (IDIBGI), CIBERCV, and School of MedicineUniversity of GironaGirona, Spainramon@brugada.orgCampuzanoOscarBSc, PhDGirona Institute of Biomedical Research (IDIBGI) and School of MedicineUniversity of GironaGirona, Spainoscar@brugada.orgSarquella-BrugadaGeorgiaMD, PhDHospital Sant Joan de DeuBarcelona, Spaingeorgia@brugada.orgBrugadaPedroMD, PhDFree University of BrusselsBrussels, Belgiumpedro@brugada.orgBrugadaJosepMD, PhDCardiovascular InstituteHospital Clinic and University of BarcelonaBarcelona, Spainjosep@brugada.orgHongKuiMD, PhDHeart Institute of Nanchang UniversityJiangxi, Chinahongkui88@163.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nBryant-Li-Bhoj Neurodevelopmental SyndromeBryantLauraPhDlaura.bryant@nationwidechildrens.orgBhojElizabethMD, PhDbhoje@chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">BSCL2</italic>-Related Neurologic Disorders / SeipinopathyItoDaisukeMD, PhDDepartment of NeurologySchool of MedicineKeio UniversityTokyo, Japand-ito@jk9.so-net.ne.jp\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nC3 GlomerulopathySynonyms: C3G, Glomerulonephritis with Dominant C3MartínBerthaPhDMolecular Otolaryngology and Renal Research Laboratories\nAnatomy and Cell Biology Department\nUniversity of Iowa\nIowa City, IowaSmithRichard JHMDProfessor of Internal Medicine, Division of Nephrology\nSterba Hearing Research Professor of Otolaryngology\nDirector, Molecular Otolaryngology and Renal Research Laboratories\nUniversity of Iowa\nIowa City, Iowa\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">C9orf72</italic> Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisSynonym: C9orf72-FTD/ALSGossyeHelenaMDhelena.gossye@uantwerpen.vib.beEngelborghsSebastiaanMD, PhDsebastiaan.engelborghs@uzbrussel.beVan BroeckhovenChristinePhD, DScchristine.vanbroeckhoven@uantwerpen.vib.bevan der ZeeJuliePhDjulie.vanderzee@uantwerpen.vib.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CACNA1C</italic>-Related DisordersNapolitanoCarloMD, PhDcarlo.napolitano@unipv.itPrioriSilvia GMD, PhDsilvia.priori@icsmaugeri.it\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCADASILSynonym: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and LeukoencephalopathyHackRemco JMDr.j.hack@lumc.nlRuttenJulieMD, PhDj.w.rutten@lumc.nlLesnik ObersteinSaskia AJMD, PhDlesnik@lumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCaffey DiseaseSynonym: Infantile Cortical HyperostosisGuerinAndreaMD, MEd, FRCPC, FCCMGandrea.guerin@kingstonhsc.caDupuisLucieMS, MSc, CGClucie.dupuis@sickkids.caMendoza-LondonoRobertoMD, MS, FACMG, FCCMGroberto.mendoza@sickkids.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCalpainopathyAngeliniCorradoMDcorrado.angelini@unipd.it\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCampomelic DysplasiaSynonyms: Camptomelic Dysplasia, SOX9-Related Campomelic DysplasiaUngerSheilaMDMedical Genetics ServiceCentre Hospitalier Universitaire VaudoisLausanne, Switzerlandsheila.unger@chuv.chSchererGerdPhDInstitute of Human GeneticsUniversity of FreiburgFreiburg, Germanygerd.scherer@uniklinik-freiburg.deSuperti-FurgaAndreaMDLeenaards Professor of PediatricsUniversity of Lausanne;Centre Hospitalier Universitaire VaudoisLausanne, Switzerland\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCamurati-Engelmann DiseaseSynonym: Progressive Diaphyseal Dysplasia, TGFB1-Related Diaphyseal Dysplasia Camurati-EngelmannWallaceStephanie EMDDivision of Genetic MedicineUniversity of WashingtonSeattle Children's HospitalSeattle, Washingtonstephanie.wallace@seattlechildrens.orgWilcoxWilliam RMD, PhDDepartment of Human GeneticsEmory University School of MedicineAtlanta, Georgiawilliam.wilcox@emory.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCanavan DiseaseSynonyms: ASPA Deficiency, Aspartoacylase DeficiencyNagyAmandaMDanagy2@mgb.orgBleyAnnette EMDabley@uke.deEichlerFlorianMDfeichler@mgb.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCantú SyndromeGrangeDorothy KMDDivision of Genetics and Genomic MedicineDepartment of PediatricsWashington University School of Medicine;St Louis Children's HospitalSt Louis, Missourigrangedk@wustl.eduNicholsColin GPhDDirector, Center for the Investigation of Membrane Excitability DiseasesDepartment of Cell Biology and PhysiologyWashington University School of MedicineSt Louis, Missouricnichols@wustl.eduSinghGautam KMDChief of Pediatric CardiologyDepartment of PediatricsCentral Michigan University School of Medicine;Children's Hospital of MichiganDetroit, Michigangsingh3@dmc.orgGuilliamsKristinMDDepartment of NeurologyWashington University School of Medicine;St Louis Children's HospitalSt Louis, Missourikristinguilliams@wustl.eduAggarwalManishMDDivision of CardiologyDepartment of PediatricsWashington University School of Medicine;St Louis Children's HospitalSt Louis, Missourimaggarwal@wustl.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCapillary Malformation-Arteriovenous Malformation SyndromeSynonym: CM-AVM SyndromeBayrak-ToydemirPinarMD, PhD, FACMGDepartment of PathologyUniversity of UtahARUP LaboratoriesSalt Lake City, Utahpinar.bayrak-toydemir@aruplab.comStevensonDavid AMD, FACMGDivision of Medical GeneticsStanford UniversityPalo Alto, Californiadasteven@stanford.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCarbonic Anhydrase VA DeficiencySynonym: CA-VA Deficiencyvan KarnebeekClaraMD, PhDDepartment of Pediatrics\nEmma Children’s Hospital\nAmsterdam University Medical Center\nAmsterdam, the Netherlandsc.d.vankarnebeek@amsterdamumc.nlHäberleJohannesMDDivision of Metabolism\nDepartment of Pediatrics\nUniversity Children's Hospital Zurich\nZurich, Switzerlandjohannes.haeberle@kispi.uzh.ch\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCardiofaciocutaneous SyndromeSynonym: CFC SyndromeRauenKatherine AMD, PhDProfessor, Department of PediatricsDivision of Genomic MedicineUniversity of California, DavisUC Davis MIND InstituteSacramento, Californiarauen@ucdavis.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCarney ComplexSynonym: Carney SyndromeStratakisConstantine AMD, DScDirector, Human Genetics & Precision MedicineFoundation for Research & Technology HellasHeraklion, Greececastratakis@verizon.net\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCarnitine-Acylcarnitine Translocase DeficiencySynonym: CACT DeficiencyMorales CoradoJ AndresMBBSAssistant Professor, Division of Clinical GeneticsDepartment of PediatricsColumbia UniversityNew York, New Yorkjm5577@cumc.columbia.eduLeeChung UMDAssistant Professor, Division of Medical GeneticsDepartment of PediatricsStanford UniversityStanford, Californiachunglee@stanford.eduEnnsGregory MMB ChBProfessor of Pediatrics, Division of Medical GeneticsDepartment of PediatricsStanford UniversityStanford, Californiagenns@stanford.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCarnitine Palmitoyltransferase 1A DeficiencySynonyms: CPT1A Deficiency, Hepatic Carnitine Palmitoyltransferase 1 DeficiencyLeeKristenMDlekriste@med.umich.eduPritchardAmandaMDabarone@med.umich.eduAhmadAyeshaMDayeshaah@med.umich.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCarnitine Palmitoyltransferase II DeficiencySynonym: CPT II DeficiencyLoPiccoloMary KateMDAssistant Professor, Icahn School of Medicine at Mount SinaiNew York, New Yorkmary.lopiccolo@mssm.eduVockleyJerryMD, PhDProfessor, University of PittsburghPittsburgh, Pennsylvaniavockleyg@upmc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum DisordersMäkitieOutiMD, PhDouti.makitie@helsinki.fiVakkilainenSvetlanaMD, PhDsvetlana.vakkilainen@helsinki.fi\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CASK</italic> DisordersMoogUteMDInstitute of Human GeneticsHeidelberg UniversityHeidelberg, Germanyute.moog@med.uni-heidelberg.deKutscheKerstinPhDInstitute of Human GeneticsUniversity Medical Center Hamburg-EppendorfHamburg, Germanykkutsche@uke.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCatecholaminergic Polymorphic Ventricular TachycardiaSynonyms: Catecholamine-Induced Polymorphic Ventricular Tachycardia, CPVTNapolitanoCarloMD, PhDAssociate Professor, Department of Molecular Medicine\nUniversity of Pavia;\nMolecular Cardiology\nICS Maugeri\nPavia, Italycarlo.napolitano@unipv.itMazzantiAndreaMD, PhDAssistant Professor, Department of Molecular Medicine\nUniversity of Pavia;\nMolecular Cardiology\nICS Maugeri\nPavia, Italyandrea.mazzanti@icsmaugeri.itBloiseRaffaellaMDMedical Geneticist, Molecular Cardiology\nICS Maugeri\nPavia, Italyraffaella.bloise@icsmaugeri.itPrioriSilvia GMD, PhDProfessor of Cardiology, Department of Molecular Medicine\nUniversity of Pavia;\nMolecular Cardiology\nICS Maugeri\nPavia, Italysilvia.priori@icsmaugeri.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCD40 Ligand DeficiencySynonyms: CD154 Deficiency, HIGM1, X-Linked Hyper-IgM Immunodeficiency (XHIGM), X-Linked Hyper IgM SyndromeDunnClinton PMDChildren's Specialty GroupChildren's Hospital of the King's DaughtersVirginia Health Sciences at Old Dominion UniversityNorfolk, Virginiaclinton.dunn@chkd.orgde la MorenaM TeresaMDUniversity of WashingtonSeattle Children's HospitalSeattle, Washingtonmariateresa.delamorena@seattlechildrens.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CDC73</italic>-Related DisordersSkefosCatherine MMA, MSCertified Genetic Counselor, Clinical Cancer Genetics ProgramThe University of Texas MD Anderson Cancer CenterHouston, Texascbskefos@mdanderson.orgWaguespackSteven GMDProfessor, Department of Endocrine Neoplasia and Hormonal Disorders & Department of PediatricsThe University of Texas MD Anderson Cancer CenterHouston, Texasswagues@mdanderson.orgPerrierNancy DMD, FACSProfessor, Department of Surgical OncologyThe University of Texas MD Anderson Cancer CenterHouston, Texasnperrier@mdanderson.orgHuMimi IMDProfessor, Department of Endocrine Neoplasia and Hormonal DisordersThe University of Texas MD Anderson Cancer CenterHouston, Texasmhu@mdanderson.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CDK13</italic>-Related DisorderSynonyms: CDK13-Related Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder; CDK13-Related CHDFIDDBostwickBretMDBaylor College of MedicineTexas Children's HospitalHouston, Texasbostwick@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCDKL5 Deficiency DisorderSynonyms: Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (CDD), CDKL5-Related Developmental and Epileptic EncephalopathyBenkeTim AMD, PhDtim.benke@cuanschutz.eduDemarestScottMDscott.demarest@cuanschutz.eduAngioneKatieMSkaitlin.angione@childrenscolorado.orgDownsJennyBAppSci, GradCertPubHlth, MSc, PhDjenny.downs@telethonkids.org.auLeonardHelenMBChB, MPHhelen.leonard@telethonkids.org.auSaldarisJacintaPhDjacinta.saldaris@telethonkids.org.auMarshEric DMD, PhDmarshe@chop.eduOlsonHeatherMD, MSheather.olson@childrens.harvard.eduHavilandIsabelMDisabel.haviland@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CDKN2A</italic> Cancer PredispositionSynonyms: CDKN2A-Related Melanoma-Astrocytoma Syndrome (MAS), Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM), Melanoma-Pancreatic Cancer SyndromeJacobsMichelle FMS, CGCmfjac@med.umich.eduMuradAndrea MMS, CGCamurad@med.umich.eduChoNicole DMS, CGCnicdcho@med.umich.eduChaKelly BMD, PhDkellycha@med.umich.eduStoffelElena MMD, MPHestoffel@med.umich.eduElseTobiasMDtelse@med.umich.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CEBPA-</italic>Associated Familial Acute Myeloid Leukemia (AML)Synonym: CEBPA-Dependent Familial Acute Myeloid LeukemiaTawanaKiranMBChB, FRCPath, PhDkiran.tawana@addenbrookes.nhs.ukFitzgibbonJudeBA, PhDj.fitzgibbon@qmul.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCeliac DiseaseSynonyms: Celiac Sprue, Cœliac Disease, Gluten-Sensitive EnteropathyTaylorAnnette KPhD, MS, FACMGAssociate VP, Strategic Director, Pharmacogenomics;Scientific Director, Molecular GeneticsLabcorpEnglewood, Coloradotayla12@labcorp.comLebwohlBenjaminMD, MSProfessor of Medicine and EpidemiologyCeliac Disease CenterColumbia UniversityNew York, New Yorkbl114@cumc.columbia.eduSnyderCara LMS, CGCCLS Genetic Consulting, LLCcara@carasnyder.comGreenPeter HRMDDirector, Celiac Disease CenterPhyllis and Ivan Seidenberg Professor of MedicineColumbia University Medical CenterNew York, New Yorkpg11@columbia.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCerebrotendinous XanthomatosisFedericoAntonioMDfederico@unisi.itGallusGian NicolaDScigallus2@unisi.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CETP</italic>-Related HyperalphalipoproteinemiaSynonyms: Cholesteryl Ester Transfer Protein (CETP) Deficiency, Primary HyperalphalipoproteinemiaBurnettJohn RMB ChB, MD, PhD, FRCPADepartment of Clinical BiochemistryRoyal Perth Hospital & Fiona Stanley Hospital NetworkPathWest Laboratory Medicine WA;Faculty of Health & Medical SciencesSchool of MedicineUniversity of Western AustraliaPerth, Australiajohn.burnett@health.wa.gov.auHooperAmanda JPhDDepartment of Clinical BiochemistryRoyal Perth Hospital & Fiona Stanley Hospital NetworkPathWest Laboratory Medicine WA;School of MedicineUniversity of Western AustraliaPerth, Australiaamanda.hooper@health.wa.gov.auHegeleRobert AMD, FRCPC, FACPDepartments of Medicine and BiochemistrySchulich School of Medicine and Robarts Research InstituteWestern UniversityLondon, Ontario, Canadahegele@robarts.ca\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCharcot-Marie-Tooth Hereditary Neuropathy OverviewSynonyms: Distal Hereditary Motor Neuropathy (dHMN), Hereditary Motor/Sensory Neuropathy (HMSN)BirdThomas DMDSeattle VA Medical Center;Departments of Neurology and MedicineUniversity of WashingtonSeattle, Washingtontomnroz@u.washington.edu\n\nSummary\n\n Clinical Characteristics of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy\n\n Causes of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy\n\n Evaluation Strategies to Identify the Genetic Cause of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy in a Proband\n\n Management of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy\n\n Genetic Counseling of Family Members of an Individual with Charcot-Marie-Tooth (CMT) Hereditary Neuropathy\n\nResources\n\nChapter Notes\n\nReferences\n\nChar SyndromeGelbBruce DMDPediatrics and Genetics and Genomic SciencesIcahn School of Medicine at Mount SinaiNew York, New Yorkbruce.gelb@mssm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CHCHD10</italic>-Related DisordersAit-El-Mkadem SaadiSamiraPhDsaadi.s@chu-nice.frChaussenotAnnabelleMDchaussenot.a@chu-nice.frBannwarthSylviePhDbannwarth.s@chu-nice.frRouzierCécileMD, PhDrouzier.c@chu-nice.frPaquis-FlucklingerVéroniqueMD, PhDpaquis@unice.fr\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CHD2</italic>-Related Neurodevelopmental DisordersCarvillGemma LPhDDepartment of NeurologyNorthwestern UniversityEvanston, Illinoisgemma.carvill@northwestern.eduMeffordHeather CMD, PhDProfessor, Center for Pediatric Neurological Disease ResearchDepartment of Cellular and Molecular BiologySt Jude Children's Research HospitalMemphis, Tennesseeheather.mefford@stjude.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CHD4</italic> Neurodevelopmental DisorderSynonyms: Sifrim-Hitz-Weiss Syndrome, SIHIWESWeissKarinMDGenetics Institute\nRambam Health Care Center;\nRuth and Bruce Rappaport Faculty of Medicine\nTechnion-Israel Institute of Technology\nHaifa, Israelk_weiss@rmc.gov.ilLachlanKatherineMDWessex Clinical Genetics Service\nUniversity Hospital Southampton NHS Trust;\nDepartment of Human Genetics and Genomic Medicine\nSouthampton University\nSouthampton, United Kingdomkatherine.lachlan@uhs.nhs.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">CHD7</italic> Disordervan Ravenswaaij-ArtsConny MMD, PhDUniversity Medical Center GroningenGroningen, the Netherlandsc.m.a.van.ravenswaaij@umcg.nlHefnerMegMSSaint Louis UniversitySt Louis, Missourimeg.hefner@health.slu.eduBlakeKimMD, MRCP, FRCPCDalhousie UniversityHalifax, Nova Scotia, Canadakblake@dal.caMartinDonna MMD, PhDUniversity of MichiganAnn Arbor, Michigandonnamm@umich.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CHD8</italic>-Related Neurodevelopmental Disorder with OvergrowthMitchelMarissa WMS, CCC-SLPmwmitchel@geisinger.eduMyersScott MMDsmyers1@geisinger.eduHeidlebaughAlexis RScM, CGCarheidlebaugh@geisinger.eduTaylorCora MPhDcmtaylor1@geisinger.eduReaHannahPhDhrea@uw.eduNeuhausEmilyPhDeneuhaus@uw.eduKurtz-NelsonEvangeline CPhDevakn@uw.eduEarlRachelPhDrearl@uw.eduBernierRaphaelPhDrab2@uw.eduLedbetterDavid HPhD, FACMGledbetter.david@ufl.eduMartinChrista LPhD, FACMGclmartin1@geisinger.eduEichlerEvan EPhDeee@gs.washington.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nChediak-Higashi SyndromeToroCamiloMDtoroc@mail.nih.govMorimotoMariePhDmarie.morimoto@nih.govMalicdanMay ChristineMD, PhDmalicdanm@mail.nih.govAdamsDavid RMD, PhDdavid.adams@nih.govIntroneWendy JMDwintrone@mail.nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CHEK2</italic>-Related Cancer PredispositionHansonHelenMDPeninsula Clinical GeneticsRoyal Devon University Healthcare NHS Foundation Trust;Department of Clinical and Biomedical SciencesUniversity of Exeter Medical SchoolExeter, United Kingdomhelen.hanson6@nhs.netPalTuyaMDDepartment of MedicineVanderbilt University Medical CenterVanderbilt-Ingram Cancer CenterNashville, Tennesseetuya.pal@vumc.orgTischkowitzMarcMD, PhDDepartment of Genomic MedicineNational Institute for Health ResearchCambridge Biomedical Research CentreUniversity of CambridgeCambridge, United Kingdommdt33@cam.ac.ukStewartDouglasMDClinical Genetics BranchDivision of Cancer Epidemiology and GeneticsNational Cancer InstituteRockville, Marylanddrstewart@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCherubismMoriceAnneMD, PhDa.morice@chu-tours.frKadlubNatachaMD, PhDnatacha.kadlub@aphp.frCoudertAméliePhDamelie.coudert@inserm.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nChildhood Ataxia with Central Nervous System Hypomyelination / Vanishing White MatterSynonyms: CACH/VWM, Leukoencephalopathy with Vanishing White Mattervan der KnaapMarjo SMD, PhDms.vanderknaap@vumc.nlFogliAnnePhDanne.fogli@inserm.u-clermont1.frBoespflug-TanguyOdileMD, PhDodile.boespflug-tanguy@rdb.aphp.frAbbinkTruus EMPhDg.abbink@vumc.nlSchiffmannRaphaelMDraphael.schiffmann@baylorhealth.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">CHKB</italic>-Related Muscular DystrophySynonym: Megaconial Congenital Muscular DystrophyChanSophelia HSMDDivision of NeurologyDepartment of Paediatrics and Adolescent MedicineSchool of Clinical MedicineLKS Faculty of MedicineUniversity of Hong KongHong Kong SAR, Chinasophehs@hku.hkNishinoIchizoMD, PhDNational Institute of NeuroscienceNational Center of Neurology and PsychiatryTokyo, Japannishino@ncnp.go.jp\n\nSummary\n\nGeneReview Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CHMP2B-</italic>Related Frontotemporal Dementia-Amyotrophic Lateral SclerosisSynonym: CHMP2B-FTD-ALSRoosPeterMD, PhDpeter.roos@regionh.dkHolmIda EMD, DMScidaholm@dadlnet.dkNielsenJørgen EMD, PhDjoergen.erik.nielsen.01@regionh.dkEjlerskovPatrickMSc, PhDpatrick.ejlerskov@regionh.dkToftAndersMD, PhDanders.toft.01@regionh.dkIsaacsAdrian MDPhila.isaacs@ucl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nChondrodysplasia Punctata 1, X-LinkedSynonym: Arylsulfatase E DeficiencyBravermanNancy EMS, MDDepartments of Pediatrics and Human Genetics\nMcGill University and Research Institute of the McGill University Health Center\nMontreal, Quebec, Canadanancy.braverman@mcgill.caBoberMichael BMD, PhDDirector, Skeletal Dysplasia Program\nAI duPont Hospital for Children\nWilmington, Delawarembober@nemours.orgBrunetti-PierriNicolaMDTelethon Institute of Genetics and Medicine;\nDepartment of Translational Medicine\nFederico II University of Naples\nNaples, Italybrunetti@tigem.itSuchySharon FPhDDirector, Inherited Metabolic Disorders\nGeneDx, Inc\nGaithersburg, Marylandssuchy@genedx.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nChondrodysplasia with Congenital Joint Dislocations, <italic toggle=\"yes\">CHST3</italic>-RelatedSynonyms: CHST3 Deficiency, CHST3-Related Skeletal Dysplasia, Recessive Larsen SyndromeSuperti-FurgaAndreaMDProfessor, Division of Genetic MedicineUniversity of Lausanne;Genetica AGLausanne, Switzerlandasuperti@unil.chUngerSheilaMDGenetica AGLausanne, Switzerlands.unger@genetica.ch\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nChoroideremiaMacDonaldIan MMD, CMmacdonal@ualberta.caHumeStaceyPhDshume@ualberta.caZhaiYiMD, PhDyzhai4@ualberta.caXuManlongMD, PhDmanlong@ualberta.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nChristianson SyndromeMorrowEric MMD, PhDDevelopmental Disorders Genetics Research ProgramEmma Pendleton Bradley HospitalThe Warren Alpert Medical SchoolDepartment of Molecular Biology, Cell Biology, and BiochemistryHassenfeld Child Health Innovation InstituteBrown UniversityProvidence, Rhode Islandemorrow@lifespan.orgPescosolidoMatthew FBADevelopmental Disorders Genetics Research ProgramEmma Pendleton Bradley HospitalThe Warren Alpert Medical SchoolBrown UniversityProvidence, Rhode Islandmatthew_pescosolido@brown.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nChronic Granulomatous DiseaseSynonym: CGDLeidingJennifer WMDDepartment of PediatricsDivision of Allergy and ImmunologyJohns Hopkins UniversityBaltimore, Marylandjleidin1@jhmi.eduHollandSteven MMDLaboratory of Clinical Microbiology and ImmunologyNational Institute of Allergy and Infectious DiseasesNational Institutes of HealthBethesda, Marylandsholland@niaid.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nChylomicron Retention DiseaseSynonym: Anderson DiseaseBurnettJohn RMB ChB, MD, PhD, FRCPAjohn.burnett@health.wa.gov.auHooperAmanda JPhDamanda.hooper@health.wa.gov.auHegeleRobert AMD, FRCPC, FACPhegele@robarts.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCitrin DeficiencySongYuan-ZongMD, PhDDepartment of PediatricsFirst Affiliated HospitalJinan UniversityGuangzhou, Chinasongyuanzong@vip.tom.comsongyuanzong@hotmail.comOishiKimihikoMDDepartment of PediatricsJikei University School of MedicineTokyo, Japankimihiko.oishi@jikei.ac.jpSahekiTakeyoriMD, PhDDepartment of Hygiene and Health Promotion MedicineKagoshima University Graduate School of Medical and Dental SciencesKagoshima, Japantakesah@gmail.com\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCitrullinemia Type ISynonyms: Argininosuccinate Synthetase Deficiency, Argininosuccinic Acid Synthetase Deficiency, ASS Deficiency, Classic Citrullinemia, CTLN1QuinonezShane CMDsquinon@umich.eduLeeKristen NMDlekriste@med.umich.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nClassic Ehlers-Danlos SyndromeSynonyms: Classical Ehlers-Danlos Syndrome; Ehlers-Danlos Syndrome, Classical Type; cEDSMalfaitFransiskaMD, PhDfransiska.malfait@ugent.beSymoensSofiePhDsofie.symoens@ugent.beSyxDelfienPhDdelfien.syx@ugent.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nClassic Galactosemia and Clinical Variant GalactosemiaSynonyms: Galactose-1-Phosphate Uridylyltransferase Deficiency, GALT DeficiencyBerryGerard TMD, FFACMGBoston Children's HospitalHarvard Medical SchoolBoston, Massachusettsgerard.berry@childrens.harvard.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nClassic Isovaleric AcidemiaSynonyms: Classic Isovaleric Aciduria, Isovaleryl-Coenzyme A Dehydrogenase DeficiencyMützeUlrikeMDulrike.muetze@med.uni-heidelberg.deReischl-HajiabadiAnnaMDanna.reischl-hajiabadi@med.uni-heidelberg.deKölkerStefanMDstefan.koelker@med.uni-heidelberg.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nClassic Mowat-Wilson SyndromeSynonym: Hirschsprung Disease – Intellectual Disability SyndromeAdamMargaret PMD, MS, FAAP, FACMGProfessor of Pediatrics, Division of Genetic MedicineDepartment of PediatricsUniversity of WashingtonSeattle, Washingtonmargaret.adam@seattlechildrens.orgContaJessieMS, LGCDepartment of LaboratoriesSeattle Children’s HospitalSeattle, WashingtonBeanLora JHPhD, FACMGPerkinElmer Genomics, IncPittsburgh, Pennsylvanialora.bean@perkinelmer.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CLCN2</italic>-Related LeukoencephalopathyMinRogierPhDr.min@amsterdamumc.nlDepienneChristelPhDchristel.depienne@uni-due.deSedelFredericMDfrederic.sedel@medday-pharma.comAbbinkTruus EMPhDg.abbink@amsterdamumc.nlvan der KnaapMarjo SMD, PhDms.vanderknaap@amsterdamumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CLCN4</italic>-Related Neurodevelopmental DisorderPalmerElizabeth EmmaPhD, MBBS, FRACPelizabeth.palmer@unsw.edu.auNguyenMatthew HuuBMedSc (Hons 1), MDhuu.nguyen1@health.nsw.gov.auForwoodCaitlinMBBS (Hons), BSc (Hons), FRACGP, DCHcaitlin.forwood@health.nsw.gov.auKalscheuerVeraPhDkalscheu@molgen.mpg.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CLCN7</italic>-Related OsteopetrosisSobacchiCristinaMScristina.sobacchi@humanitasresearch.itVillaAnnaMD, PhDanna.villa@humanitasresearch.itSchulzAnsgarMDansgar.schulz@uniklinik-ulm.deKornakUweMD, PhDuwe.kornak@med.uni-goettingen.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCleidocranial Dysplasia Spectrum DisorderSynonym: Cleidocranial DysostosisMacholKerenMD, PhDmachol@bcm.eduMendoza-LondonoRobertoMD, MSroberto.mendoza@sickkids.caLeeBrendanMD, PhDblee@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCLPB DeficiencySynonyms: Caseinolytic Peptidase B Deficiency, CLPB DefectWortmannSaskia BMD, PhDClinical Lead, Pediatric Metabolic DisordersDepartment of PediatricsSalzburger Landeskliniken and Paracelsus Medical UniversitySalzburg, Austrias.wortmann@salk.atWeversRon APhDTranslational Metabolic LaboratoryDepartment of Laboratory MedicineRadboud University Medical CenterNijmegen, the Netherlandsron.wevers@radboudumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CNOT1</italic>-Related Vissers-Bodmer SyndromeSynonym: CNOT1-Related Neurodevelopmental Disorderde BrouwerArjan PMPhDarjan.debrouwer@radboudumc.nlVissersLisenkaPhDlisenka.vissers@radboudumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCockayne SyndromeLaugelVincentMD, PhDLaboratory of Medical GeneticsStrasbourg, Francevincent.laugel@chru-strasbourg.fr\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCoffin-Siris SyndromeSynonym: Fifth Digit SyndromeSchrier VerganoSamanthaMDDivision of Genetic MedicineSeattle Children's HospitalSeattle, Washingtonsamantha.vergano@seattlechildrens.orgSantenGijsMD, PhDDepartment of Clinical GeneticsLeiden University Medical CenterLeiden, the Netherlandsg.w.e.santen@lumc.nlWieczorekDagmarMDInstitute of Human GeneticsMedical Faculty and University HospitalHeinrich Heine UniversityDüsseldorf, Germanydagmar.wieczorek@med.uni-duesseldorf.deMatsumotoNaomichiMD, PhDDepartment of Human GeneticsYokohama City University Graduate School of MedicineYokohama, Japannaomat@yokohama-cu.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCohen SyndromeSynonym: VPS13B-Related Neurodevelopmental DisorderWangHengMD, PhDPediatrician, Medical Director, DDC Clinic – Center for Special Needs ChildrenMiddlefield, Ohiowang@ddcclinic.orgXinBaozhongPhDResearch and Technical Director, DDC Clinic – Center for Special Needs ChildrenMiddlefield, Ohiobxin@ddcclinic.orgWenselChristineMSLicensed Genetic Counselor, Robert J Tomsich Pathology and Laboratory MedicineCleveland ClinicCleveland, Ohiowenselc@ccf.orgTraboulsiElias IMD, MEdProfessor of Ophthalmology, Cleveland Clinic Foundation and Lerner College of MedicineVice-Chair for Education and Head, Pediatric Ophthalmology and StrabismusDirector, Center for Genetic Eye DiseasesCole Eye InstituteCleveland, Ohiotraboue@ccf.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">COL1A1</italic>- and <italic toggle=\"yes\">COL1A2</italic>-Related Osteogenesis ImperfectaSynonyms: Brittle Bone Disease, OIRodriguez CelinMercedesMDmercedesrodriguezcelin@gmail.comSteinerRobert DMDrdsteiner111@gmail.comBaselDonaldMDdbasel@mcw.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">COL4A1</italic>-Related DisordersPlaisierEmmanuelleMD, PhDemmanuelle.plaisier@aphp.frRoncoPierreMD, PhDpierreronco@yahoo.fr\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCold-Induced Sweating Syndrome Including Crisponi SyndromeHahnAngelika FMD, FRCPDepartment of Clinical Neurological Sciences\nLondon Health Sciences Centre\nWestern University\nLondon, Ontario, Canadaangelika.hahn@lhsc.on.caKnappskogPer MortenPhDCenter for Medical Genetics\nHaukeland University Hospital\nBergen, Norwayper.knappskog@helse-bergen.no\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCollagen VI-Related DystrophiesSynonyms: COL6-Related Dystrophies (COL6-RDs)FoleyA ReghanMD, MD(Res)reghan.foley@nih.govMohasselPayamMDpayam.mohassel@nih.govDonkervoortSandraMS, CGCsandra.donkervoort@nih.govBolducVéroniquePhDveronique.bolduc@nih.govBönnemannCarsten GMD, habilcarsten.bonnemann@nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nComplete Plasminogen Activator Inhibitor 1 DeficiencySynonyms: Complete PAI-1 Deficiency, Homozygous PAI-1 DeficiencyHeimanMeadowMSmheiman@ihtc.orgGuptaSwetaMDsgupta@ihtc.orgLewandowskaMagdalenaMDmlewandowska@ihtc.orgShapiroAmy DMDashapiro@ihtc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">COMP</italic>-Related PseudoachondroplasiaSynonym: Pseudoachondroplasia (PSACH)BriggsMichael DPhDProfessor of Skeletal Genetics, Institute of Genetic MedicineNewcastle UniversityInternational Centre for LifeNewcastle upon Tyne, United Kingdommichael.briggs@newcastle.ac.ukWrightMichael JMB, ChB, MSc, FRCPConsultant in Clinical Genetics, Northern Genetics ServiceNewcastle upon Tyne HospitalsNewcastle upon Tyne, United Kingdommichael.wright@nuth.nhs.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCongenital Central Hypoventilation SyndromeWeese-MayerDebra EMDdweese-mayer@luriechildrens.orgd-weese-mayer@northwestern.eduRandCasey MBScrand@luriechildrens.orgKhaytinIlyaMD, PhDikhaytin@luriechildrens.orgilya.khaytin@northwestern.eduSlatterySusan MMD, MSsslattery@luriechildrens.orgsusan.slattery@northwestern.eduYapKai LeePhD FACMGklyap@luriechildrens.orgMarazitaMary LPhD, FACMGmarazita@pitt.eduBerry-KravisElizabeth MMD, PhDelizabeth_m_berry-kravis@rush.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCongenital Contractural ArachnodactylySynonyms: Beals-Hecht Syndrome, Beals SyndromeCallewaertBertMD, PhDCenter for Medical GeneticsGhent University HospitalGhent, Belgiumbert.callewaert@ugent.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCongenital Deafness with Labyrinthine Aplasia, Microtia, and MicrodontiaSynonyms: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia; LAMM SyndromeOrdonezJessicaMSDivision of Clinical GeneticsCenter for Genomic MedicineMiami Cancer Institute at Baptist Health South FloridaMiami, Floridajessicaord@baptisthealth.netTekinMustafaMDDr John T Macdonald FoundationDepartment of Human GeneticsJohn P Hussman Institute for Human GenomicsMiami, Floridamtekin@med.miami.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCongenital Diaphragmatic Hernia Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLYLongoniMauroMDAssistant Professor of Surgery, Harvard Medical SchoolAssistant, Massachusetts General HospitalBoston, Massachusettsmlongoni@mgh.harvard.eduPoberBarbara RMDPediatrician, MassGeneral Hospital for ChildrenProfessor Emeritus of Pediatrics, Harvard Medical SchoolBoston, Massachusettspober.barbara@mgh.harvard.eduHighFrances AMD, PhDDivision of Medical GeneticsMassGeneral Hospital for ChildrenDepartment of SurgeryBoston Children’s HospitalBoston, Massachusettsfhigh@partners.org\n\nSummary\n\n Clinical Characteristics of Congenital Diaphragmatic Hernia\n\n Genetic Causes of Congenital Diaphragmatic Hernia\n\n Evaluation Strategies to Identify the Genetic Cause of Congenital Diaphragmatic Hernia in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nCongenital Dyserythropoietic Anemia Type ITamaryHannahMDProfessor of Pediatrics\nDirector, Hematology Diagnostic and Research Laboratory\nSchneider Children's Medical Center of Israel\nPetah Tiqva, Israelhtamary@tauex.tau.ac.ilDganyOrlyPhDDirector, Pediatric Hematology Diagnostic Laboratory\nFelsenstein Medical Research Center\nBeilinson Campus\nPetah Tiqva, Israel\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCongenital Erythropoietic PorphyriaSynonym: Günther DiseaseErwinAngelikaMD, PhDerwina@ccf.orgBalwaniManishaMD, MSmanisha.balwani@mssm.eduDesnickRobert JMD, PhD, FACMGrobert.desnick@mssm.eduPorphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCongenital Fibrosis of the Extraocular Muscles OverviewSynonym: CFEOMWhitmanMary CMD, PhDmary.whitman@childrens.harvard.eduJurgensJulie APhDjulie.jurgens@childrens.harvard.eduHunterDavid GMD, PhDdavid.hunter@childrens.harvard.eduEngleElizabeth CMDelizabeth.engle@childrens.harvard.edu\n\nSummary\n\n Clinical Characteristics of Congenital Fibrosis of the Extraocular Muscles\n\n Genetic Causes of CFEOM\n\n Differential Diagnosis of CFEOM\n\n Evaluation Strategy to Identify the Genetic Cause of CFEOM in a Proband (When Possible)\n\n Management of CFEOM\n\n Genetic Counseling of Family Members of an Individual with CFEOM\n\nResources\n\nChapter Notes\n\nReferences\n\nCongenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLYGunay-AygunMeralMDmgaygun@mail.nih.govGahlWilliam AMD, PhDbgahl@helix.nih.govHellerTheoMDtheller@nih.gov\n\nSummary\n\nDefinition\n\nCauses of Congenital Hepatic Fibrosis\n\nEvaluation Strategy\n\nGenetic Counseling\n\nResources\n\nManagement\n\nReferences\n\nChapter Notes\n\nCongenital Insensitivity to Pain OverviewSchonKatherine RoseMB ChB, MRCP, MADepartment of Clinical GeneticsAddenbrooke's HospitalCambridge, United Kingdomks339@cam.ac.ukParkerAlasdair Patrick JohnMBBS, MRCP, MD, MADepartment of Paediatric NeurologyAddenbrooke's HospitalCambridge, United Kingdomapjparker@gmail.comWoodsChristopher GeoffreyMB ChB, FRCP, FMedSciDepartment of Medical GeneticsThe Clinical Medical SchoolUniversity of CambridgeCambridge, United Kingdomcw347@cam.ac.uk\n\nSummary\n\n Clinical Characteristics of Congenital Insensitivity to Pain\n\n Causes of Congenital Insensitivity to Pain\n\n Evaluation Strategy to Identify the Genetic Cause of Congenital Insensitivity to Pain\n\n Management\n\n Genetic Risk Assessment\n\nResources\n\nChapter Notes\n\nReferences\n\nCongenital Mirror MovementsSynonym: Congenital Mirror Movement DisorderMéneretAurélieMD, PhDaurelie.meneret@aphp.frTrouillardOrianeBSoriane.trouillard@icm-institute.orgDunoyerMargauxMDmargaux.dunoyerdesegonzac@aphp.frDepienneChristelPhDchristel.depienne@uni-due.deRozeEmmanuelMD, PhDemmanuel.flamand-roze@aphp.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCongenital Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLYSparksSusan EMD, PhDSanofi GenzymeCambridge, Massachusettssusan.sparks@genzyme.comQuijano-RoySusanaMD, PhDNeuromuscular Center (GNMH)Department of PediatricsAPHP-Raymond Poincaré University HospitalUniversity of Versailles Saint Quentin-en-YvelinesGarches, Francesusana.quijano-roy@rpc.aphp.frHarperAmyMDPediatric Neuromuscular Disorders and Neurodevelopmental DisabilitiesCarolinas Pediatric Neurology Care – CharlotteLevine Children's Hospital – Carolinas Medical CenterCharlotte, North Carolinaamy.harper@carolinasheathcare.orgRutkowskiAnneMDChairman, Cure CMDOlathe, Kansasanne.rutkowski@curecmd.orgGordonErynnMS, CGCCoriell Institute for Medical ResearchCamden, New Jerseyegordon@coriell.orgHoffmanEric PPhDResearch Center for Genetic MedicineChildren's National Medical CenterWashington, DCehoffman@childrens-research.orgPegoraroElenaMD, PhDDepartment of NeurosciencesUniversity of PadovaPadova, Italyelena.pegoraro@unipd.it\n\nSummary\n\nDefinition of CMD\n\nSubtypes of CMD\n\nEstablishing the Diagnosis of a CMD Subtype\n\nGenetic Counseling\n\nResources\n\nManagement\n\nReferences\n\nChapter Notes\n\nCongenital Myasthenic Syndromes OverviewSynonym: Congenital MyastheniaAbichtAngelaMDMedical Genetics Center (MGZ);Department of NeurologyFriedrich-Baur InstituteMunich, Germanyangela.abicht@mgz-muenchen.deMüllerJuliane SPhDDepartment of Clinical NeurosciencesUniversity of CambridgeCambridge, United Kingdomjsm90@cam.ac.ukLochmüllerHannsMDChildren's Hospital of Eastern Ontario Research Institute;Division of NeurologyDepartment of MedicineThe Ottawa Hospital;Brain and Mind Research InstituteUniversity of OttawaOttawa, Canadahlochmuller@toh.ca\n\nSummary\n\n Clinical Characteristics of Congenital Myasthenic Syndromes\n\n Subtypes and Genetic Causes of Congenital Myasthenic Syndromes\n\n Differential Diagnosis of Congenital Myasthenic Syndromes\n\n Evaluation Strategies to Identify the Genetic Cause of a Congenital Myasthenic Syndrome in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nCongenital NAD Deficiency DisorderSynonym: Vertebral, Cardiac, Renal, and Limb Defects (VCRL)MarkPaulMDDepartment of PediatricsDivision of Medical GeneticsHelen DeVos Children's HospitalCorewell Health;Department of Pediatrics and Human DevelopmentCollege of Human MedicineMichigan State UniversityGrand Rapids, Michiganpaul.mark@corewellhealth.orgDunwoodieSallyPhDDevelopmental and Regenerative Biology DivisionVictor Chang Cardiac Research Institute;School of Clinical MedicineFaculty of Medicine and HealthUniversity of New South WalesSydney, New South Wales, Australia\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCongenital Stromal Corneal DystrophyRødahlEyvindMD, PhDeyvind.rodahl@helse-bergen.noKnappskogPer MPhDper.morten.knappskog@helse-bergen.noBredrupCecilieMD, PhDcecilie.bredrup@helse-bergen.noBomanHelgeMD, PhDhelge.boman@helse-bergen.no\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nCornelia de Lange SyndromeSynonyms: Brachmann-de Lange Syndrome (BDLS), CdLSDeardorffMatthew AMD, PhDDepartments of Pathology and PediatricsChildren's Hospital Los AngelesKeck School of MedicineUniversity of Southern CaliforniaLos Angeles, Californiamdeardorff@chla.usc.eduRaibleSarah EMSDivision of Human GeneticsThe Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvanianoons@email.chop.eduKrantzIan DMDDivision of Medical GeneticsSystem Vice President Department of PediatricsZucker School of Medicine – Hofstra University;Cohen Children's Medical Center / Northwell HealthGreat Neck, New Yorkikrantz@northwell.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCosteff SyndromeSynonyms: 3-Methylglutaconic Aciduria Type 3, OPA3 DefectAniksterYairMD, PhDHead of Metabolic Disease Unit\nEdmond and Lily Safra Children's Hospital\nSheba Medical Center\nTel Hashomer, Israelyair.anikster@sheba.health.gov.il\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nCranioectodermal DysplasiaSynonym: Sensenbrenner SyndromeTanWeizhenMDClinical Instructor, Harvard Medical SchoolDivision of Pediatric NephrologyMassGeneral Hospital for ChildrenBoston, Massachusettswtan2@partners.orgLinAngelaMDProfessor of Pediatrics, Harvard Medical SchoolMedical GeneticsMassGeneral Hospital for ChildrenBoston, Massachusettslin.angela@mgh.harvard.eduKeppler-NoreuilKimMDProfessor of Pediatrics, Division Chief of Genetics & MetabolismUniversity of Wisconsin School of Medicine and Public HealthMadison, Wisconsinkepplernoreu@wisc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCreatine Deficiency DisordersSynonym: Cerebral Creatine Deficiency DisordersMercimek-AndrewsSaadetMD, PhD, FCCMG, FRCPCAssociate Professor, Department of Medical GeneticsFaculty of Medicine and DentistryUniversity of AlbertaEdmonton, Alberta, Canadasaadet@ualberta.caSalomonsGajja SPhDProfessor, Department of Clinical ChemistryLaboratory Genetic Metabolic DiseasesAmsterdam University Medical CentersAmsterdam, the Netherlandsg.salomons@amsterdamumc.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CSF1R</italic>-Related DisorderDulskiJaroslawMD, PhDdulski.jaroslaw@mayo.edujaroslaw.dulski@gumed.edu.plSundalChristinaMD, PhDchristinahsundal@gmail.comWszolekZbigniew KMDwszolek.zbigniew@mayo.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CSNK2B</italic>-Related Neurodevelopmental DisorderSynonym: Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS)LippaNatalieMS, CGCDepartment of MedicineColumbia University Vagelos College of Physicians and SurgeonsNew York, NYnl2528@cumc.columbia.eduMulhernMaureenMS, MAT, CGCInter-Departmental Genetic Counseling ProgramDepartment of NeurologyPrecision Genomics LaboratoryColumbia University Vagelos College of Physicians and SurgeonsNew York, NYmm4757@cumc.columbia.eduErnst FloridoMichelleMS, CGCDepartment of Genetics & DevelopmentGenetic Counseling Graduate ProgramColumbia University Vagelos College of Physicians and SurgeonsNew York, NYme2623@cumc.columbia.eduEarleyChelseaMDFellow, Pediatric Clinical EpilepsyColumbia University Irving Medical CenterNew York, NYce2383@cumc.columbia.eduSandsTristan TMD, PhDDepartment of NeurologyColumbia University Vagelos College of Physicians and SurgeonsNew York, NYtts27@cumc.columbia.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CTCF</italic>-Related DisorderSynonyms: Autosomal Dominant Intellectual Disability 21, CTCF-Related Neurodevelopmental DisorderValverde de MoralesHannah GabrielaMDgvalverde@integragenetics.comWangHsiao-LinPhDhsiao-lin.wang@emory.eduGarberKathrynPhDkgarbe2@emory.eduCorcesVictorPhDvcorces@emory.eduLiHongMD, PhDhong.li@emory.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CTDP1</italic>-Related Congenital Cataracts, Facial Dysmorphism, and NeuropathySynonym: CTDP1-CCFDNKalaydjievaLubaMD, PhDLaboratory for Molecular GeneticsHarry Perkins Institute of Medical Research and Centre for Medical ResearchThe University of Western AustraliaPerth, Australialuba.kalaydjieva@uwa.edu.auChamovaTeodoraMD, PhDDepartment of NeurologyUniversity Hospital AlexandrovskaMedical University of SofiaSofia, Bulgariateodoratch@abv.bg\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CTNNB1</italic> Neurodevelopmental DisorderHoStephanie KLMDstephanie_kl_ho@dh.gov.hkTsangMandy HYMMScmandyhytsang@gmail.comLeeMianneMScmianne2@connect.hku.hkChengShirley SWMDshirley_s_cheng@gmail.comLukHo-mingMDlukhm@ha.org.hkLoIvan FMMDcon_cg@dh.gov.hkChungBrian HYMDbhychung@hku.hkbhychung@genomics.org.hk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">CYLD</italic> Cutaneous SyndromeSynonyms: Brooke-Spiegler Syndrome (BSS), Familial Cylindromatosis (FC), Multiple Familial Trichoepithelioma (MFT)DuboisAnnaBSc, MBChBanna.dubois@nhs.netRajanNeilMBBS, PhDneil.rajan@ncl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nCystic FibrosisSavantAdrienneMD, MSasavant1@tulane.eduLymanBenjaminDOblyman@lsuhsc.eduBojanowskiChristineMD, MSCRcbojanowski@tulane.eduUpadiaJariyaMDjupadia@tulane.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCystinosisNesterovaGalinaMDMedical Advisor, Cystinosis Research Networkgnesterova@hotmail.comGahlWilliam AMD, PhDSenior Investigator, National Human Genome Research InstituteNational Institutes of HealthBethesda, Marylandgahlw@mail.nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCystinuriaSynonyms: Cystine Nephrolithiasis, Cystine Stone Disease, Cystine UrolithiasisSpasianoAndreaMDandrea.spasiano@univr.itHalbritterJanMDjan.halbritter@charite.deFerraroPietro ManuelMD, MSc, PhD, FERApietromanuel.ferraro@univr.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nCytochrome P450 Oxidoreductase DeficiencySynonyms: POR Deficiency, PORDIdkowiakJanMD, PhDj.idkowiak@bham.ac.ukCragunDeborahMS, CGCdeborahcragun@gmail.comHopkinRobert JMDrob.hopkin@cchmc.orgArltWiebkeMD, DScw.arlt@bham.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nDanon DiseaseTaylorMatthew RGMD, PhDAdult Medical Genetics ProgramUniversity of Colorado Anschutz Medical CampusAurora, Coloradomatthew.taylor@cuanschutz.eduAdlerEric DMDDivision of CardiologyUniversity of California San DiegoSan Diego, Californiaeradler@ucsd.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDBA SyndromeSynonyms: Diamond-Blackfan Anemia (DBA), Diamond-Blackfan Syndrome (DBS)SieffColinMBBCh, FRCPathBoston Children's Hospital and Dana Farber Cancer InstituteHarvard Medical SchoolBoston, Massachusettscolin.sieff@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DCTN1</italic>-Related NeurodegenerationDulskiJaroslawMD, PhDDivision of Neurological and Psychiatric NursingFaculty of Health SciencesMedical University of Gdansk;Neurology DepartmentSt Adalbert Hospital, Copernicus PLGdansk, Polandjaroslaw.dulski@gumed.edu.plKonnoTakuyaMD, PhDDepartment of NeurologyBrain Research InstituteNiigata UniversityNiigata, Japankonno_t@bri.niigata-u.ac.jpWszolekZbigniewMDDepartment of NeurologyMayo ClinicJacksonville, Floridawszolek.zbigniew@mayo.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DCX</italic>-Related DisordersGeisTobiasMDtobias.geis@barmherzige-regensburg.deUyanikGökhanMDgoekhan.uyanik@oegk.atgoekhan.uyanik@med.sfu.ac.atAignerLudwigPhDludwig.aigner@pmu.ac.atCouillard-DespresSebastienPhDs.couillard-despres@pmu.ac.atWinklerJürgenMDjuergen.winkler@uk-erlangen.deHehrUteMDute.hehr@klinik.uni-regensburg.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DDX11</italic>-Related CohesinopathySynonyms: Warsaw Breakage Syndrome (WABS), Warsaw SyndromeAlkhunaiziEbbaMDebba.alkhunaizi@mail.mcgill.caBroshRobert MJrPhDbroshr@grc.nia.nih.govChitayatDavidMDDavid.Chitayat@sinaihealth.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DDX3X</italic>-Related Neurodevelopmental DisorderJohnson-KernerBethanyMD, PhDbethany.kerner@ucsf.eduSnijders BlokLotMDlot.snijdersblok@radboudumc.nlSuitLindseyBAlindsey.suit@ucsf.eduThomasJulianMDjulian.thomas@choc.orgKleefstraTjitskeMD, PhDtjitske.kleefstra@radboudumc.nlSherrElliott HMD, PhDelliott.sherr@ucsf.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DDX41</italic>-Associated Familial Myelodysplastic Syndrome and Acute Myeloid LeukemiaSynonyms: DDX41-Related Myeloid Neoplasia, Myeloid Neoplasms with Germline DDX41 MutationChurpekJane EMD, MSAssistant Professor, Division of Hematology, Oncology, and Palliative Care\nDepartment of Medicine\nUniversity of Wisconsin School of Medicine and Public Health\nMadison, Wisconsinjchurpek@wisc.eduSmith-SimmerKelcyMMSc, CGCGenetic Counselor, Oncology Genetics\nUniversity of Wisconsin Carbone Cancer Center\nUW Health\nAdjunct Assistant Professor, Master of Genetic Counselor Studies\nDepartment of Pediatrics\nUniversity of Wisconsin School of Medicine and Public Health\nMadison, Wisconsinksmith-simmer@uwhealth.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDeafness-Dystonia-Optic Neuronopathy SyndromeSynonyms: DDON, Mohr-Tranebjaerg SyndromeTranebjærgLisbethMD, PhDProfessor of Medical Genetics and Genetic AudiologyDepartment of Clinical GeneticsUniversity Hospital/The Kennedy CenterInstitute of Clinical Medicine;The Panum InstituteUniversity of CopenhagenCopenhagen, Denmarktranebjaerg@sund.ku.dklisbeth.tranebjaerg@regionh.dk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDent DiseaseLieskeJohn CMDlieske.john@mayo.eduMillinerDawn SMDmilliner.dawn@mayo.eduBeara-LasicLadaMDladabl@yahoo.comHarrisPeterPhDharris.peter@mayo.eduCogalAndreaBScogal.andrea@mayo.eduAbrashElizabethBAewabrash@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDeoxyguanosine Kinase DeficiencySynonyms: DGUOK Deficiency; DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral FormEl-HattabAyman WMD, FAAP, FACMGProfessor, Department of Clinical SciencesCollege of MedicineUniversity of SharjahSharjah, United Arab Emirateselhattabaw@yahoo.comScagliaFernandoMD, FAAP, FACMGProfessor, Department of Molecular and Human GeneticsBaylor College of MedicineHouston, Texasfscaglia@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DEPDC5</italic>-Related EpilepsyBaulacStéphaniePhDstephanie.baulac@icm-institute.orgBaldassariSaraPhDsara.baldassari@icm-institute.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDFNA2 Nonsyndromic Hearing LossSmithRichard JHMDDirector, Molecular Otolaryngology Research Laboratories\nSterba Hearing Research Professor of Otolaryngology\nProfessor of Otolaryngology, Pediatrics, and Internal Medicine, Division of Nephrology\nCarver College of Medicine\nUniversity of Iowa\nIowa City, Iowarichard-smith@uiowa.eduHildebrandMichaelPhDDepartment of Medicine\nUniversity of Melbourne\nMelbourne, Australiamichael.hildebrand@unimelb.edu.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nDiabetes Mellitus, 6q24-Related Transient NeonatalSynonym: 6q24-TNDMTempleIsabel KarenMD, MBChB, FRCPikt@southampton.ac.ukMackayDeborah JGPhD, MAdjgm@southampton.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDiastrophic DysplasiaSynonym: Diastrophic Dwarfism, SLC26A2-Related Diastrophic DysplasiaUngerSheilaMDAssociate Professor, Service of Genetic MedicineLausanne University HospitalLausanne, Switzerlandsheila.unger@chuv.chSuperti-FurgaAndreaMDProfessor of Genetics, Service of Genetic MedicineLausanne University HospitalLausanne, Switzerlandasuperti@unil.ch\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DICER1-</italic>Related Tumor PredispositionSynonyms: DICER1 Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome, DICER1 SyndromeSchultzKris Ann PMDkrisann.schultz@childrensmn.orgNelsonAlexander TMDanelso13@bidmc.harvard.eduKamiharaJunneMD, PhDjunne_kamihara@dfci.harvard.eduBauerAndrew JMDbauera@chop.eduHattonJessicaMS, CGCjessica.hatton@nih.govMeridethMelissa AMD, MPHmmeridet@mail.nih.govStrattonPamelaMDstrattop@mail.nih.govHarrisAnne KMPHanne.harris@childrensmn.orgFieldAmandaMPHmandy@resourecepath.netDehnerLouis PMDdehner@wustl.eduStewartDouglas RMDdrstewart@mail.nih.govHillD AshleyMDhilldanaa@wustl.eduMessingerYoav HMDyoav.messinger@childrensmn.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDiffuse Gastric and Lobular Breast Cancer SyndromeSynonyms: DGLBCS, Hereditary Diffuse Gastric Cancer (HDGC)Barbosa-MatosRitaBSc, PhDi3S - Instituto de Investigação e Inovação em SaúdeUniversity of PortoPorto, Portugalamatos@i3s.up.ptCórdovaLilianMDDepartment of Medical GeneticsUniversity of British ColumbiaVancouver, Canadalilian.cordova@bccancer.bc.caSchraderKasmintanMBBS, PhDProgram Medical Co-Director, Hereditary CancerBC Cancer;Assistant Professor, Department of Medical GeneticsUniversity of British ColumbiaVancouver, Canadaischrader@bccancer.bc.caOliveiraCarlaPhDi3S - Instituto de Investigação e Inovação em Saúde;Institute of Molecular Pathology and Immunology;Faculty of MedicineUniversity of PortoPorto, Portugalcarlaol@i3s.up.pt\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDihydrolipoamide Dehydrogenase DeficiencySynonyms: DLD Deficiency, E3 DeficiencyQuinonezShane CMDClinical Assistant Professor\nUniversity of Michigan\nAnn Arbor, Michigansquinon@med.umich.eduThoeneJess GMDActive Emeritus Professor of Pediatrics\nUniversity of Michigan\nAnn Arbor, Michiganjthoene@med.umich.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDihydropteridine Reductase DeficiencySynonyms: DHPR Deficiency, DYT/PARK-QDPR, QDPR-Related Tetrahydrobiopterin Deficiency, Quinoid Dihydropteridine Reductase DeficiencyLongoNicolaMD, PhDDivision of Clinical GeneticsDepartment of Human GeneticsUniversity of California Los AngelesLos Angeles, Californianlongo@mednet.ucla.eduOpladenThomasMDDivision of Pediatric Neurology and Metabolic MedicineDepartment ICenter for Pediatric and Adolescent MedicineMedical Faculty HeidelbergHeidelberg UniversityHeidelberg, Germanythomas.opladen@med.uni-heidelberg.deBlauNenadPhDDivision of MetabolismUniversity Children's Hospital ZurichZurich, Switzerlandnenad.blau@kispi.uzh.ch\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDilated Cardiomyopathy OverviewHershbergerRay EMDProfessor of Medicine, Divisions of Human Genetics and Cardiovascular MedicineThe Ohio State UniversityColumbus, Ohioray.hershberger@osumc.eduJordanElizabethMS, LGCAssistant Professor, Division of Human GeneticsThe Ohio State UniversityColumbus, Ohioelizabeth.jordan@osumc.edu\n\nSummary\n\n Dilated Cardiomyopathy (DCM): Definition\n\n Dilated Cardiomyopathy (DCM): Categories\n\n Establishing (When Possible) the Specific Genetic Cause of DCM\n\n Genetic Risk Assessment and Cardiac Surveillance of At-Risk Relatives for Detection of Early Treatable Manifestations of DCM\n\nResources\n\nChapter Notes\n\nReferences\n\nDisorders of <italic toggle=\"yes\">GNAS</italic> InactivationSynonym: Gsα DeficiencyHaldeman-EnglertChad RMD, FACMGFullerton Genetics CenterAsheville, North Carolinachad.haldeman-englert@msj.orgHurstAnna CEMD, MSDepartment of GeneticsUniversity of Alabama at BirminghamBirmingham, Alabamaacehurst@uab.eduLevineMichael AMD, FAAP, FACP, MACEDepartment of Pediatrics, Division of Endocrinology and DiabetesChildren's Hospital of Philadelphia;University of Pennsylvania Perelman School of MedicinePhiladelphia, Pennsylvanialevinem@chop.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDisorders of Intracellular Cobalamin MetabolismSloanJennifer LPhD, MSjsloan@mail.nih.govCarrilloNuriaMDcarrilln@mail.nih.govAdamsDavidMD, PhDdadams1@mail.nih.govVendittiCharles PMD, PhDvenditti@mail.nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DLG4</italic>-Related SynaptopathyTümerZeynepMD, PhD, DMSczeynep.tumer@regionh.dkDyeThomas JMDPradaCarlosMDcprada@luriechildrens.orgWhite-BrownAlexandre MMScawhitebrown@cheo.on.caMacKenzieAlexMDmackenzie@cheo.on.caLevyAmanda MMScmarie.amanda.bust.levy@regionh.dk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DNAJC6</italic> Parkinson DiseaseSynonym: PARK-DNAJC6KurianManju AMRCPCH, PhDmanju.kurian@ucl.ac.ukAbelaLuciaMD, MSclucia.abela@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DNMT1</italic>-Related DisorderKleinChristopher JMDMayo ClinicRochester, Minnesotaklein.christopher@mayo.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDonnai-Barrow SyndromeSynonyms: DBS/FOAR Syndrome, Faciooculoacousticorenal Syndrome, FOAR SyndromeLongoniMauroMDAssistant Professor of Surgery, Harvard Medical SchoolAssistant, Massachusetts General HospitalBoston, Massachusettsmlongoni@mgh.harvard.eduKantarciSibelPhD, FACMGCytogenetics and GenomicsQuest Diagnostics Nichols InstituteCytogenetics and GenomicsSan Juan Capistrano, Californiasibel.x.kantarci@questdiagnostics.comDonnaiDianMDManchester Centre for Genomic MedicineUniversity of ManchesterSt Mary's HospitalManchester, United Kingdomdian.donnai@mft.nhs.ukPoberBarbara RMDPediatrician, Mass General Hospital for ChildrenHarvard Medical SchoolBoston, Massachusettspober.barbara@mgh.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDopamine Beta-Hydroxylase DeficiencyBiaggioniItaloMDProfessor, Departments of Medicine and PharmacologyVanderbilt University Medical CenterNashville, Tennesseeitalo.biaggioni@vumc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDRPLASynonym: Dentatorubral-Pallidoluysian AtrophyPradesSilviaPhDspradesabadias@ataxia.org.ukMelo de GusmaoClaudioMDGrimaldiSilviaMDShiloh-MalawskyYaelMDFeltonThomasMS, CGCHouldenHenryMD, PhDh.houlden@ucl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDuane SyndromeSynonyms: Duane Anomaly, Isolated; Duane Retraction Syndrome; Stilling-Turk-Duane SyndromeBarryBrenda JMSbrenda.barry2@childrens.harvard.eduWhitmanMary CMD, PhDmary.whitman@childrens.harvard.eduHunterDavid GMD, PhDdavid.hunter@childrens.harvard.eduEngleElizabeth CMDelizabeth.engle@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDuarte GalactosemiaSynonym: Duarte Variant GalactosemiaFridovich-KeilJudith LPhDjfridov@emory.eduGambelloMichael JMD, PhDmgambel@emory.eduSinghRani HPhD, RDrsingh@emory.eduSharerJ DanielPhDdsharer@uab.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DYNC1H1</italic>-Related DisordersMöllerBirkbmoelle2@smail.uni-koeln.deCoppolaAntoniettaMD, PhDantonietta.coppola1@gmail.comJungbluthHeinzMD, PhDheinz.jungbluth@kcl.ac.ukheinz.jungbluth@gstt.nhs.ukDafsariHormos SalimiDr medhormos.dafsari@uk-koeln.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">DYRK1A</italic> Syndromevan BonBregje WMMD, PhDbregje.vanbon@radboudumc.nlCoeBradley PPhDbcoe@u.washington.edude VriesBert BAMD, PhDbert.devries@radboudumc.nlEichlerEvan EPhDeee@gs.washington.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDysferlinopathyAokiMasashiMD, PhDDepartment of NeurologyTohoku University School of MedicineSendai, Japanaokim@med.tohoku.ac.jpTakahashiToshiakiMD, PhDDepartment of NeurologyNational Hospital Organization – Sendai-Nishitaga HospitalSendai, Japantakahashi.toshiaki.hj@mail.hosp.go.jp\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDyskeratosis Congenita and Related Telomere Biology DisordersSynonym: Zinsser-Cole-Engman SyndromeSavageSharon AMDsavagesh@mail.nih.govNiewischMarena RMDmarena.niewisch@nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDystrophic Epidermolysis BullosaSynonyms: DEB, Epidermolysis Bullosa DystrophicaLuckyAnne WMDEmeritus Professor of Dermatology and PediatricsCincinnati Children's Epidermolysis Bullosa CenterCincinnati Children's HospitalCincinnati, Ohioannewlucky@gmail.comPopeElenaMD, MScDivision of Pediatric DermatologyHospital for Sick Children;Temerty Faculty of MedicineUniversity of TorontoToronto, Ontario, Canadaelena.pope@sickkids.caCrawfordSarahMMSc, CGCGenetic CounselorDivision of Human GeneticsCincinnati Children's HospitalCincinnati, Ohiosarah.crawford2@cchmc.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDystrophinopathiesDarrasBasil TMDDirector, Neuromuscular CenterDepartment of NeurologyBoston Children’s HospitalHarvard Medical SchoolBoston, Massachusettsbasil.darras@childrens.harvard.eduUrionDavid KMDDepartment of NeurologyBoston Children’s HospitalHarvard Medical SchoolBoston, Massachusettsdavid.urion@childrens.harvard.eduGhoshPartha SMDNeuromuscular CenterDepartment of NeurologyBoston Children’s HospitalHarvard Medical SchoolBoston, Massachusettspartha.ghosh@childrens.harvard.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDYT-<italic toggle=\"yes\">GNAL</italic>Synonyms: DYT25, GNAL-Related DystoniaDeutschländerAngela BMDDepartments of Neurology, Neuroscience, and Clinical GenomicsMayo ClinicJacksonville, Floridadeutschlander.angela@mayo.eduWszolekZbigniew KMDDepartment of NeurologyMayo ClinicJacksonville, Floridawszolek.zbigniew@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nDYT-<italic toggle=\"yes\">TOR1A</italic>Synonyms: DYT1 Early-Onset Isolated Dystonia, Early-Onset Torsion Dystonia, Oppenheim DystoniaOzeliusLauriePhDDepartment of NeurologyMassachusetts General HospitalCharlestown, Massachusettsmailto:laurie.ozelius@mgh.harvard.eduLubarrNaomiMDDepartment of NeurologyMount Sinai Beth IsraelNew York, New Yorknaomi.lubarr@mountsinai.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">EBF3</italic> Neurodevelopmental DisorderSynonym: Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS)NarayananDhanya LakshmiMD, DMdhanya.lakshmi@manipal.eduKutscheKerstinPhDkkutsche@uke.deGirishaKatta MMD, DMgirish.katta@manipal.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">EBP-</italic>Related X-Linked Chondrodysplasia PunctataSynonyms: Conradi-Hünermann-Happle Syndrome, X-Linked Chondrodysplasia Punctata 2 (CDPX2)KumbleSmithaMBBS, FRACPVictorian Clinical Genetics ServiceMurdoch Children's Research InstituteParkville, Victoria, Australiasmitha.kumble@vcgs.org.auSavarirayanRaviMBBS, MD, FRACP, ARCPA (Hon)Victorian Clinical Genetics ServiceMurdoch Children's Research InstituteParkville, Victoria, AustraliaThe University of MelbourneMelbourne, Australiaravi.savarirayan@vcgs.org.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">EED</italic>-Related OvergrowthSequerra Amram CohenAnaPhDAssistant Professor of PathologyUniversity of Missouri-Kansas City School of Medicine;Assistant Director, Molecular GeneticsChildren's Mercy Kansas CityKansas City, Missouriacohen1@cmh.eduGibsonWilliam ThomasMD, PhD, FRCPC, FCCMG, FACMG, FRSM (UK)Professor, UBC Department of Medical Genetics;Senior Clinician Scientist, BC Children's HospitalVancouver, British Columbia, Canadawtgibson@bcchr.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">EFEMP2</italic>-Related Cutis LaxaSynonym: Autosomal Recessive Cutis Laxa Type 1B (ARCL1B)LoeysBartMD, PhDCenter for Medical GeneticsAntwerp University HospitalAntwerp, Belgiumbart.loeys@uantwerp.beDe PaepeAnneMD, PhDCenter for Medical GeneticsGhent University HospitalGhent, Belgiumanne.depaepe@ugent.beUrbanZsoltPhDDepartment of Human GeneticsGraduate School of Public HealthUniversity of PittsburghPittsburgh, Pennsylvaniaurbanz@pitt.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ELANE</italic>-Related NeutropeniaDaleDavid CMDProfessor, Department of Medicine\nUniversity of Washington Medical Center\nSeattle, Washingtondcdale@uw.eduMakaryanVahagnMDDepartment of Medicine\nUniversity of Washington Medical Center\nSeattle, Washingtonvahagm@uw.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nEl-Hattab-Alkuraya SyndromeSynonym: WDR45B-Related Neurodevelopmental DisorderAlmannaiMohammedMD, FAAP, FACMGGenetics and Precision Medicine DepartmentKing Abdullah Specialized Children's HospitalKing Abdulaziz Medical CityMinistry of National Guard Health AffairsRiyadh, Saudi Arabiammannai81@gmail.comMarafiDanaMD, MScDepartment of PediatricsFaculty of MedicineKuwait UniversityJabriya, Kuwaitdana.marafie@ku.edu.kwEl-HattabAyman WMD, FAAP, FACMGCollege of MedicineUniversity of SharjahSharjah, United Arab Emirateselhattabaw@yahoo.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nEllis-van Creveld SyndromeSynonym: Chondroectodermal Dysplasia (Ellis-van Creveld)Da SilvaJorge DiogoMD, PhDjorge.diogo.silva@chporto.min-saude.ptTkachenkoNataliyaMDnatalia.tkachenko@chporto.min-saude.ptSoaresAna RitaMDana.rita.soares@chporto.min-saude.pt\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ELN</italic>-Related Cutis LaxaSynonym: Autosomal Dominant Cutis Laxa Type 1 (ADCL1)CallewaertBert LMD, PhDCenter for Medical GeneticsGhent University HospitalGhent, Belgiumbert.callewaert@ugent.beUrbanZsoltPhDDepartment of Human GeneticsUniversity of Pittsburgh Graduate School of Public HealthPittsburgh, Pennsylvaniaurbanz@pitt.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nEmanuel SyndromeSynonym: Supernumerary der(22)t(11;22) SyndromeEmanuelBeverly SPhD, FACMGChief Emeritus, Division of Human Genetics\nThe Children's Hospital of Philadelphia\nPhiladelphia, PennsylvaniaZackaiElaine HMD, FACMGDirector, Clinical Genetics\nDivision of Human Genetics\nThe Children's Hospital of Philadelphia\nPhiladelphia, PennsylvaniaMedneLivijaMS, CGCGenetic Counselor, Division of Human Genetics\nThe Children's Hospital of Philadelphia\nPhiladelphia, Pennsylvania\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">EMC10</italic>-Related Neurodevelopmental DisorderUmairMuhammadPhDMedical Genomics Research DepartmentKing Abdullah International Medical Research Center (KAIMRC)King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS)Ministry of National Guard Health Affairs (MNGHA)Riyadh, Saudi Arabiaumairmu@mngha.med.saAlfadhelMajidMD, MHSc, SSC-Ped, ABHS(CH), FCCMGGenetics and Precision Medicine DepartmentKing Abdullah Specialized Children Hospital (KASCH)King Abdulaziz Medical CityMinistry of National Guard Health Affairs (MNGHA)Riyadh, Saudi Arabiadralfadhelm@gmail.comfadhelma@mngha.med.sa\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nEmery-Dreifuss Muscular DystrophyBen YaouRabahMDr.benyaou@institut-myologie.orgLeturcqFranceMDfrance.leturcq@aphp.frBonneGisèlePhDgisele.bonne@inserm.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nEncephalocraniocutaneous LipomatosisSynonyms: Fishman Syndrome, Haberland SyndromeMoogUteMDInstitute of Human GeneticsHeidelberg UniversityHeidelberg, Germanyute.moog@med.uni-heidelberg.deDobynsWilliam BMDDepartment of PediatricsUniversity of MinnesotaMinneapolis, Minnesotawbdobyns@umn.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nEnlarged Parietal ForaminaSynonym: Symmetric Parietal ForaminaMavrogiannisLampros AMSc, DPhilGenetics LaboratorySt James University HospitalLeeds, United Kingdomlampros.mavrogiannis@nhs.netWilkieAndrew OMMA, DM, FRCPUniversity of OxfordOxford, United Kingdomandrew.wilkie@imm.ox.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ENTPD1</italic>-Related Neurodevelopmental DisorderSynonyms: Autosomal Recessive Spastic Paraplegia 64, HSP-ENTPD1, Spastic Paraplegia 64 (SPG64)CalameDanielMD, PhDdaniel.calame@bcm.eduHermanIsabellaMD, PhDisabellg@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">EPB42</italic>-Related Hereditary SpherocytosisKalfaTheodosia AMD, PhDCancer and Blood Diseases Institute\nDivision of Hematology\nCincinnati Children's Hospital Medical Center and University of Cincinnati Medical School\nCincinnati, Ohiotheodosia.kalfa@cchmc.orgBegtrupAmber HPhD, FACMGGeneDx, Inc\nGaithersburg, Marylandabegtrup@genedx.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">EPG5</italic>-Related DisorderDafsariHormos SalimiMDhormos.dafsari@uk-koeln.deEbrahimi-FakhariDariusMD, PhDdarius.ebrahimi-fakhari@childrens.harvard.eduSaffariAfshinMDafshin.saffari@childrens.harvard.eduDeneubourgCelineMScceline.deneubourg@kcl.ac.ukFantoManolisPhDmanolis.fanto@kcl.ac.ukJungbluthHeinzMD, PhDheinz.jungbluth@gstt.nhs.ukheinz.jungbluth@kcl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nEpidermolysis Bullosa SimplexSoJodi YBAjodiso@stanford.eduTengJoyceMD, PhDjteng3@stanford.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nEpidermolysis Bullosa with Pyloric AtresiaSynonym: EB-PALuckyAnne WMDDirector, Cincinnati Children's Epidermolysis Bullosa CenterCincinnati Children's HospitalCincinnati, Ohioannewlucky@gmail.comGorellEmilyDO, MSDermatology Resident, Department of DermatologyUniversity of Cincinnati College of MedicineCincinnati, OHgorelley@ucmail.uc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nEpimerase Deficiency GalactosemiaSynonyms: Galactosemia Type III, GALE Deficiency, UDP-Galactose-4'-Epimerase DeficiencyFridovich-KeilJudithPhDDepartment of Human GeneticsEmory University School of MedicineAtlanta, Georgiajfridov@emory.eduBeanLoraPhDPerkinElmer Genomics, IncPittsburgh, Pennsylvanialora.bean@perkinelmer.comHeMiaoPhDDepartment of Pathology and Laboratory MedicineUniversity of PennsylvaniaPhiladelphia, Pennsylvaniahem@email.chop.eduSchroerRichardMDGreenwood Genetic CenterGreenwood, South Carolinaschroer@ggc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nEpisodic Ataxia Type 1Synonym: EA1HasanSonia MPhDDepartment of Physiology\nFaculty of Medicine\nKuwait University\nKuwait City, Kuwaitsonia@hsc.edu.kwD'AdamoMaria CristinaPhDDepartment of Physiology and Biochemistry\nUniversity of Malta\nMsida, Maltacristina.dadamo@um.edu.mt\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nErythropoietic Protoporphyria, Autosomal RecessiveBalwaniManishaMD, MSmanisha.balwani@mssm.eduBloomerJosephMDjbloomer@uab.eduDesnickRobertMD, PhD, FACMGrobert.desnick@mssm.eduPorphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">ESCO2</italic> Spectrum DisorderVegaHugoMD, PhDNursing DepartmentNursing Informatics ProgramSchool of Professional StudiesCity University of New YorkNew York, New Yorkhuvega@gmail.comGordilloMiriamPhDDepartment of SurgeryWeill Cornell Medical CollegeNew York, New Yorkmig2021@med.cornell.eduJabsEthylin WangMDDepartment of Clinical GenomicsMayo ClinicRochester, Minnesotajabs.ethylin@mayo.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nEsophageal Atresia / Tracheoesophageal Fistula Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLYEA/TEF Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLYScottDaryl AMD, PhDDepartment of Molecular and Human GeneticsBaylor College of MedicineHouston, Texasdscott@bcm.edu\n\nSummary\n\n Clinical Characteristics of EA/TEF\n\n Genetic Causes of EA/TEF\n\n Evaluation Strategies to Identify the Genetic Cause of EA/TEF in a Proband\n\n Genetic Counseling\n\nResources\n\n Management of EA/TEF\n\nChapter Notes\n\nReferences\n\nEthylmalonic EncephalopathySynonym: ETHE1 DeficiencyDi MeoIvanoPhDivano.dimeo@istituto-besta.itLampertiCostanzaMDcostanza.lamperti@istituto-besta.itTirantiValeriaPhDvaleria.tiranti@istituto-besta.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ETV6-</italic>Related Thrombocytopenia and Predisposition to LeukemiaSynonyms: ETV6-Linked Leukemia / Familial Thrombocytopenia Syndrome, Thrombocytopenia 5 (THC5)PenchevaBojanaMMSc, CGCABGC Certified Genetic Counselor, Cancer Predisposition ClinicEmory University School of Medicine & Aflac Cancer and Blood Disorders CenterChildren's Healthcare of AtlantaAtlanta, Georgiabojana.borislavova.pencheva@emory.eduDi PaolaJorgeMDProfessor of Pediatrics and Molecular Genetics & GenomicsWashington University School of MedicineSt Louis Children's HospitalSt Louis, Missouridipaolaj@wustl.eduPorterChristopher CMDProfessor, Department of PediatricsEmory University School of Medicine & Aflac Cancer and Blood Disorders CenterChildren's Healthcare of AtlantaAtlanta, Georgiachris.porter@emory.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">EXOC6B</italic>-Related Spondyloepimetaphyseal Dysplasia with Joint LaxitySynonym: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 (SEMDJL3)BhavaniGandham SriLakshmiMSc, PhDgsl.bhavani@manipal.eduSinghSwatiMScswatisingh0730@gmail.comGirishaKatta MohanMD, DM, PhDgirish.katta@manipal.edug.kumar@squ.edu.om\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">EXOSC3</italic> Pontocerebellar HypoplasiaSynonym: Pontocerebellar Hypoplasia Type 1B (PCH1B)BaasFrankMD, PhDf.baas@amc.uva.nlvan DijkTessaMD, PhD\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">EZH2</italic>-Related OvergrowthOcanseySharonMBBS, BSc, MScSpecialist Registrar in Clinical GeneticsSt George's University Hospital NHS Foundation TrustLondon, United KingdomTatton-BrownKatrinaBM BCh, MDProfessor and Consultant in Clinical GeneticsSt George's University of London;St George's University Hospital NHS Foundation TrustLondon, United Kingdomkatrina.tattonbrown@stgeorges.nhs.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFabry DiseaseSynonyms: Alpha-Galactosidase A Deficiency, Anderson-Fabry DiseaseMehtaAtulMA, MD, FRCP, FRCPathEmeritus Professor, Department of HaematologyUniversity College London School of MedicineLondon, United Kingdomatul.mehta1@nhs.netHughesDerralynn AMA, DPhil, FRCP, FRCPathProfessor, Experimental HaematologyLysosomal Storage Disorders UnitDepartment of HaematologyRoyal Free HospitalUniversity College LondonLondon, United Kingdomrmgvdah@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFacioscapulohumeral Muscular DystrophySynonyms: FSHD, FSH Muscular DystrophyPrestonMatthew KMDpreston4@uw.eduWangLeo HMD, PhDleowang@uw.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFactor V Leiden ThrombophiliaSynonym: Hereditary Resistance to Activated Protein CPastoriDanieleMD, PhD, FESCdaniele.pastori@uniroma1.itMenichelliDaniloMDdanilo.menichelli@uniroma1.itValerianiEmanueleMDemanuele.valeriani@uniroma1.itPignatelliPasqualeMD, PhDpasquale.pignatelli@uniroma1.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FAM111A</italic>-Related Skeletal DysplasiasChengShirleyMDshirley.cheng@ha.org.hkLoIvan FMMDcon_cg@dh.gov.hkLukHo-MingMDlukhm@ha.org.hk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFamilial Cerebral Cavernous MalformationsSynonyms: Familial Cavernous Hemangioma, Familial Cerebral Cavernous Angioma, Familial Cerebral Cavernous Malformation SyndromeFlemmingKelly DMDMayo ClinicRochester, Minnesotaflemming.kelly@mayo.eduSmithEdwardMDBoston Children's HospitalBoston, Massachusettsedward.smith@childrens.harvard.eduMarchukDouglasPhDDuke UniversityDurham, North Carolinadouglas.marchuk@duke.eduDerryW BrentPhDThe Hospital for Sick ChildrenToronto, Ontario, Canadabrent.derry@sickkids.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFamilial Combined HypolipidemiaSynonyms: Angiopoietin-Like Protein 3 (ANGPTL3) Deficiency, Familial Combined Hypobetalipoproteinemia Type 2 (FHBL2)BurnettJohn RMB ChB, MD, PhD, FRCPADepartment of Clinical BiochemistryRoyal Perth Hospital & Fiona Stanley Hospital NetworkPathWest Laboratory Medicine WA;Faculty of Health & Medical SciencesSchool of MedicineUniversity of Western AustraliaPerth, Australiajohn.burnett@health.wa.gov.auHooperAmanda JPhDDepartment of Clinical BiochemistryRoyal Perth Hospital & Fiona Stanley Hospital NetworkPathWest Laboratory Medicine WA;School of MedicineUniversity of Western AustraliaPerth, Australiaamanda.hooper@health.wa.gov.auHegeleRobert AMD, FRCPC, FACPDepartments of Medicine and BiochemistrySchulich School of Medicine and Robarts Research InstituteWestern UniversityLondon, Ontario, Canadahegele@robarts.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFamilial DysautonomiaSynonyms: Hereditary Sensory and Autonomic Neuropathy Type III (HSAN III), Riley-Day SyndromeBar-AlumaBat-ElMDPediatric Pulmonology UnitNational Center for Familial DysautonomiaEdmond and Lily Safra Children's HospitalSheba Medical Center;Sackler Faculty of MedicineTel Aviv UniversityTel Aviv, Israelbatel.baraluma@sheba.health.gov.il\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFamilial Hemiplegic MigraineJenJoanna CMD, PhDDepartment of NeurologyIcahn School of Medicine at Mount SinaiNew York, New Yorkjoanna.jen@mssm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFamilial Hemophagocytic LymphohistiocytosisSynonyms: Familial Erythrophagocytic Lymphohistiocytosis, Primary Hemophagocytic LymphohistiocytosisZhangKejianMD, MBAMount Sinai Genomics;Sema4New York, New Yorkkejian.zhang2017@gmail.comAstigarragaItziarMD, PhDDepartment of PediatricsHospital Universitario CrucesOsakidetzaIIS Biocruces BizkaiaUPV/EHUBarakaldo, Spainitziar.astigarraga@osakidetza.eusBrycesonYenanPhDDepartment of MedicineKarolinska InstitutetStockholm, Swedenyenan.bryceson@ki.seLehmbergKaiMDDepartment of Pediatric Hematology and OncologyDivision of Pediatric Stem Cell Transplantation and ImmunologyUniversity Medical Center EppendorfHamburg, Germanyk.lehmberg@uke.deMachowiczRafalMDMedical University of WarsawWarsaw, Polandr.machowicz@wp.plMarshRebeccaMDCincinnati Children's Hospital;University of CincinnatiCincinnati, Ohiorebecca.marsh@cchmc.orgSieniElenaMDMeyer Children's University HospitalFlorence, Italyelena.sieni@meyer.itWangZhaoMDDepartment of HematologyBeijing Friendship HospitalCapital Medical UniversityBeijing, Chinazhaowww263@yahoo.comNicholsKim EMDDepartment of OncologySt Jude Children's Research HospitalMemphis, Tennesseekim.nichols@stjude.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFamilial HypercholesterolemiaSynonyms: Familial Hypercholesterolæmia, Hyperlipoproteinemia Type IIAIsonHannah EMS, LCGChison@stanfordhealthcare.orgClarkeShoa LMD, PhDshoa@stanford.eduKnowlesJoshua WMD, PhDknowlej@stanford.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFamilial Lipoprotein Lipase DeficiencySynonym: Familial LPL DeficiencyBurnettJohn RMB ChB, MD, PhD, FRCPAjohn.burnett@health.wa.gov.auHooperAmanda JPhDamanda.hooper@health.wa.gov.auHegeleRobert AMD, FRCPC, FACPhegele@robarts.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nFamilial Mediterranean FeverSynonym: Recurrent PolyserositisShohatMordechaiMDmshohat@post.tau.ac.il\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFamilial Paroxysmal Nonkinesigenic DyskinesiaSynonyms: Paroxysmal Dystonic Choreoathetosis, Paroxysmal Nonkinesigenic Dyskinesia, PNKDErroRobertoMD, PhDCenter for Neurodegenerative Diseases\nDepartment of Medicine, Surgery, and Dentistry \"Scuola Medica Salernitana\"\nUniversity of Salerno\nSalerno, Italyrerro@unisa.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nFamilial Porphyria Cutanea TardaSynonyms: Familial PCT (F-PCT); Porphyria Cutanea Tarda, Type II (Type II PCT); UROD-Related Porphyria Cutanea TardaRudnickSeanMDsrudnick@wakehealth.eduPhillipsJohnPhDjohn.phillips@hsc.utah.eduBonkovskyHerbertMDhbonkovs@wakehealth.eduPorphyrias Consortium of the Rare Diseases Clinical Research Network\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFanconi AnemiaSynonym: Fanconi PancytopeniaMehtaParinda AMDProfessor, Division of Bone Marrow Transplantation and Immune DeficiencyCincinnati Children's Hospital Medical CenterCincinnati, Ohioparinda.mehta@cchmc.orgEbensChristen LMD, MPHAssociate Professor, Division of Blood and Marrow Transplant & Cellular TherapyUniversity of MinnesotaMinneapolis, Minnesotaebens012@umn.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFARS2 DeficiencyAlmannaiMohammedMD, FAAP, FACMGmalmannai@kfmc.med.saFaqeihEissaMDefaqeih@kfmc.med.saEl-HattabAyman WMD, FAAP, FACMGelhattabaw@yahoo.comWongLee-Jun CPhD, FACMGljwong@bcm.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FASTKD2</italic>-Related Combined Oxidative Phosphorylation DeficiencySynonyms: Combined Oxidative Phosphorylation (OXPHOS) Deficiency 44 (COXPD44), FASTKD2-Related Mitochondrial DiseasePatilSiddaramappa JMD, DMDivision of Medical GeneticsMazumdar Shaw Medical Centre / Narayana Hrudayalaya HospitalsBangalore, Indiadrsjpatil@gmail.comKaurNamanpreetBSc, MScThe MRC Protein Phosphorylation and Ubiquitylation UnitSchool of Life SciencesUniversity of DundeeDundee, Scotland, United Kingdomnamanpreetkaur70@gmail.comShuklaAnjuMD, DMDepartment of Medical GeneticsKasturba Medical College;Manipal Academy of Higher EducationManipal, Indiaanju.shukla@manipal.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFatty Acid Hydroxylase-Associated NeurodegenerationSynonym: Spastic Paraplegia 35 (SPG35)GregoryAllisonMSDepartment of Molecular and Medical GeneticsOregon Health & Science UniversityPortland, Oregongregorya@ohsu.eduVenkateswaranSunitaMDDepartment of NeurologyChildren's Hospital of Eastern OntarioOttawa, Ontario, Canadasvenkateswaran@cheo.on.caHayflickSusan JMDDepartments of Molecular and Medical Genetics, Pediatrics, and NeurologyOregon Health & Science UniversityPortland, Oregonhayflick@ohsu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FBLN5</italic>-Related Cutis LaxaVan MaldergemLionelMD, PhDCentre de Génétique HumaineCentre Hospitalier UniversitaireUniversité de Franche-ComtéBesançon, Francevmald@skypro.beLoeysBartMD, PhDCenter for Medical GeneticsAntwerp University HospitalEdegem, Belgiumbart.loeys@uantwerpen.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FBN1</italic>-Related Marfan SyndromeDietzHarryMDVictor A McKusick Professor, Departments of Genetic Medicine, Pediatrics, Medicine, and Molecular Biology & Genetics;Investigator, Howard Hughes Medical Institute;Johns Hopkins University School of MedicineBaltimore, Marylandhdietz@jhmi.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FBXL4</italic>-Related Encephalomyopathic Mitochondrial DNA Depletion SyndromeSynonyms: FBXL4 Deficiency; FBXL4-Related Early-Onset Mitochondrial Encephalopathy; Mitochondrial DNA Depletion Syndrome 13 (MTDPS13), Encephalomyopathic TypeAlmannaiMohammedMD, FAAP, FACMGMedical Genetics and Metabolic Consultant, Section of Medical GeneticsKing Fahad Medical CityRiyadh, Saudi Arabiamalmannai@kfmc.med.saDaiHongzhengPhDClinical Molecular Genetics and Genomics Fellow, Department of Molecular & Human GeneticsBaylor College of MedicineHouston, Texashongzheng.dai@bcm.eduEl-HattabAyman WMD, FAAP, FACMGAssociate Professor, Department of Clinical SciencesCollege of MedicineUniversity of SharjahSharjah, United Arab Emirateselhattabaw@yahoo.comWongLee-Jun CPhD, FACMGProfessor, Department of Molecular and Human GeneticsBaylor College of MedicineHouston, Texasljwong@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nFeingold Syndrome 1Synonyms: Oculodigitoesophagoduodenal Syndrome, ODED SyndromeMarcelisCarlo LMMDDepartment of Human GeneticsRadboud University Nijmegen Medical CenterNijmegen, The Netherlandscarlo.marcelis@radboudumc.nlde BrouwerArjan PMPhDAssistant Professor, Department of Human GeneticsRadboud University Nijmegen Medical CenterNijmegen, The Netherlandsarjan.debrouwer@radboudumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FGD1</italic>-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome)Synonyms: Aarskog-Scott Syndrome, Aarskog Syndrome, Faciogenital DysplasiaJeanneMédéricMD, PhDPRISME Division for Congenital and Developmental DisordersDepartment of GeneticsHôpital de l'EstranAvranches, Francem.jeanne@ch-estran.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FGFR1</italic>-Related Hartsfield SyndromeDhamijaRadhikaMD, FAAPDepartment of Clinical GenomicsMayo ClinicPhoenix, Arizonadhamija.radhika@mayo.eduBabovic-VuksanovicDusicaMDDepartment of Clinical GenomicsMayo ClinicRochester, Minnesotadbabovic@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FGFR</italic> Craniosynostosis Syndromes OverviewSynonym: FGFR AcrocephalosyndactylyWengerTaraMD, PhDtara.wenger@seattlechildrens.orgMillerDannyMD, PhDdanny.miller@seattlechildrens.orgEvansKellyMDkelly.evans@seattlechildrens.org\n\nSummary\n\n Clinical Characteristics of <italic toggle=\"yes\">FGFR</italic> Craniosynostosis Syndromes\n\n Causes of <italic toggle=\"yes\">FGFR</italic> Craniosynostosis\n\n Evaluation Strategies to Identify the Genetic Cause of an <italic toggle=\"yes\">FGFR</italic> Craniosynostosis Syndrome in a Proband\n\n Management of Individuals with an <italic toggle=\"yes\">FGFR</italic> Craniosynostosis Syndrome\n\n Genetic Risk Assessment\n\nResources\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FH</italic> Tumor Predisposition SyndromeSynonyms: Fumarate Hydratase Tumor Predisposition Syndrome (FHTPS), Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), Multiple Cutaneous and Uterine Leiomyomatosis (MCL/MCUL), Reed's SyndromeKamiharaJunneMD, PhDDana-Farber Cancer Institute;Boston Children's HospitalBoston, Massachusettsjunne_kamihara@dfci.harvard.eduSchultzKris AnnMDChildren's MinnesotaMinneapolis, Minnesotakrisann.schultz@childrensmn.orgRanaHuma QMD, MPHDana-Farber Cancer InstituteBoston, Massachusettshumaq_rana@dfci.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFibrodysplasia Ossificans ProgressivaSynonyms: Myositis Ossificans Progressiva, Progressive Ossifying Myositis, ACVR1-Related Fibrodysplasia Ossificans ProgressivaAkessonLauren SMBBS (Hons), PhD, FRACP, FRCPAUniversity of TasmaniaHobart, Tasmania, Australialauren.akesson@utas.edu.auSavarirayanRaviMBBS, MD, FRACP, ARCPA (Hon)Victorian Clinical Genetics Services;Murdoch Children's Research Institute;University of MelbourneParkville, Victoria, Australiaravi.savarirayan@vcgs.org.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFibrous Dysplasia / McCune-Albright SyndromeSynonym: FD/MASSzymczukVivianMDvivian.szymczuk@nih.govFlorenzanoPabloMDpablo.florenzano@nih.govde CastroLuis FPhDluis.fernandezdecastrodiaz@nih.govCollinsMichael TMDmcollins@dir.nidcr.nih.govBoyceAlison MMDboyceam@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FKBP14</italic> Kyphoscoliotic Ehlers-Danlos SyndromeSynonym: kEDS-FKBP14GiuntaCeciliaPhDcecilia.giunta@kispi.uzh.chRohrbachMarianneMD, PhDmarianne.rohrbach@kispi.uzh.chFauthChristineMDchristine.fauth@i-med.ac.atBaumannMatthiasMDmatthias.baumann@tirol-kliniken.at\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nFLNA DeficiencyChenMing HuiMD, MMScBoston Children's HospitalBoston, Massachusettsminghui.chen@cardio.chboston.orgWalshChristopher AMD, PhDBoston Children's HospitalHoward Hughes Medical InstituteHarvard Medical SchoolBoston, Massachusettschristopher.walsh@childrens.harvard.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FLNA</italic>-Related Otopalatodigital Spectrum DisordersSynonyms: Otopalatodigital Spectrum Disorders (OPDSD); X-Linked Otopalatodigital Spectrum DisordersRobertsonStephenFRACP, DPhilDepartment of Paediatrics and Child HealthDunedin School of MedicineUniversity of OtagoDunedin, New Zealandstephen.robertson@otago.ac.nzWadeEmmaPhDDepartment of Obstetrics, Gynaecology and Women's HealthDunedin School of MedicineUniversity of OtagoDunedin, New Zealandemma.wade@otago.ac.nz\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FLNB-</italic>Related DisordersRobertsonStephenFRACP, DPhilProfessor of Paediatric GeneticsDepartment of Paediatrics and Child HealthDunedin School of MedicineUniversity of OtagoDunedin, New Zealandstephen.robertson@otago.ac.nzMeiraJoannaMD, MScProfessor, State University of Bahia (UNEB)Salvador, Bahia, Braziljoannagcm@gmail.com\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FMR1</italic> DisordersHunterJessica EzzellPhDCenter for Health ResearchKaiser Permanente NorthwestPortland, Oregonjessica.e.hunter@kpchr.orgBerry-KravisElizabethMD, PhDDepartments of Pediatrics, Neurological Sciences, and BiochemistryRush University Medical CenterChicago, Illinoiselizabeth_berry-kravis@rush.eduHippHeatherMDDivision of Reproductive Endocrinology and InfertilityEmory University School of MedicineAtlanta, Georgiahhipp@emory.eduToddPeter KMD, PhDDepartment of NeurologyUniversity of Michigan Medical SchoolAnn Arbor, Michiganpetertod@med.umich.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FOLR1</italic>-Related Cerebral Folate Transport DeficiencySynonyms: Folate Receptor-Alpha Deficiency, FOLR1 Deficiency, FOLRα Deficiency, FRα DeficiencyGoldmanI DavidMDDepartments of Medicine and Molecular PharmacologyAlbert Einstein College of MedicineBronx, New Yorki.david.goldman@einsteinmed.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FOXG1</italic> SyndromeSynonyms: FOXG1-Related Disorder, FOXG1-Related Encephalopathy, FOXG1-Related Neurodevelopmental DisorderBrockmannKnutMDInterdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic DisordersChildren's Hospital,University Medical CenterGöttingen, Germanyknut.brockmann@med.uni-goettingen.deStaudtMartinMDCenter for Pediatric Palliative CareDr von Hauner Children's HospitalUniversity HospitalLMU MunichMunich, Germanymartin.staudt@med.uni-muenchen.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFOXP1 SyndromeSynonyms: FOXP1 Haploinsufficiency, FOXP1-Related Neurodevelopmental DisorderRappoldGudrunPhDgudrun.rappold@med.uni-heidelberg.deSiperPaigePhDpaige.siper@mssm.eduKosticAnaPhDana.kostic@mssm.eduBradenRuthPhDbraden.r@unimelb.edu.auMorganAngelaPhDangela.morgan@mcri.edu.auKoeneSaskiaMD, PhDs.koene@lumc.nlKolevzonAlexanderMDalexander.kolevzon@mssm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FOXP2-</italic>Related Speech and Language DisorderMorganAngelaBSpPath (Aud Hons), PhDHead, Speech & Language,Murdoch Children's Research Institute;Professor, Department of Audiology and Speech PathologyUniversity of Melbourne;Director, Genetics of Speech ClinicRoyal Children’s HospitalMelbourne, Victoria, Australiaamor@unimelb.edu.auFisherSimon EDPhilLanguage and Genetics DepartmentMax Planck Institute for Psycholinguistics;Donders Institute for Brain, Cognition and BehaviourRadboud UniversityNijmegen, the Netherlandssimon.fisher@mpi.nlSchefferIngridMBBS, PhD, FRACP, FAAEpilepsy Research CentreDepartment of Medicine and PaediatricsUniversity of Melbourne;Austin HealthMelbourne, Victoria, Australiai.scheffer@unimelb.edu.auHildebrandMichaelPhDEpilepsy Research CentreMelbourne Brain CentreDepartment of MedicineUniversity of Melbourne;Austin Health;Neuroscience GroupMurdoch Children's Research InstituteMelbourne, Victoria, Australiamichael.hildebrand@unimelb.edu.au\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFree Sialic Acid Storage DisorderAdamsDavidMD, PhDdadams1@mail.nih.govHuizingMarjanPhDmhuizing@mail.nih.govWassersteinMelissaMDmwassers@montefiore.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FREM1</italic> Autosomal Recessive DisordersLiChumeiMD, PhD, FRCPC, FCCMGMcMaster Children's HospitalDepartment of PediatricsMcMaster UniversityHamilton, Ontario, Canadalichum@mcmaster.caSlavotinekAnneMBBS, PhDDepartment of PediatricsDivision of GeneticsUniversity of California, San FranciscoSan Francisco, Californiaanne.slavotinek@cchmc.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFriedreich AtaxiaSynonym: FRDABidichandaniSanjay IMBBS, PhDProfessor of Pediatrics, University of Oklahoma Health Sciences CenterOklahoma City, Oklahomasanjay-bidichandani@ouhsc.eduDelatyckiMartin BMBBS, FRACP, PhDProfessor and Clinical Geneticist, Victorian Clinical Genetics Services;Co-Director, Bruce Lefroy Centre for Genetic Health ResearchMurdoch Children's Research InstituteVictoria, Australiamartin.delatycki@vcgs.org.auNapieralaMarekPhD, DScProfessor of Neurology, University of Texas Southwestern Medical Center;O’Donnell Brain InstituteDallas, Texasmarek.napierala@utsouthwestern.eduDuquetteAntoineMD, MSc, FRCP(C)Associate Clinical Professor, Department of NeurosciencesCentre hospitalier de l'Université de MontréalMontréal, Canadaantoine.duquette@umontreal.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">FRMD7</italic>-Related Infantile NystagmusSynonyms: NYS1, X-Linked Idiopathic Infantile NystagmusThomasMervyn GBSc (Hons), MB ChB, PhDmt350@le.ac.ukMaconachieGailBSc, PhDHisaundMichaelBScGottlobIreneMD, Univ Doz, FRCOphthig15@le.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFructose-1,6-Bisphosphatase DeficiencySynonyms: FBP1 Deficiency; FBPase Deficiency; Fructose 1,6 Diphosphatase DeficiencyBijarnia-MahaySunitaMBBS, DCH, DNBbijarnia@gmail.comBhatiaSameerMBBS, MDdrsameerbhatia@gmail.comAroraVeronicaMBBS, MS, DNB (OBG)veronicaarora@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFryns SyndromeSlavotinekAnneMBBS, PhDProfessor of Human GeneticsDivision of Human GeneticsDepartment of PediatricsCincinnati Children's Hospital Medical Centeranne.slavotinek@cchmc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFucosidosisSynonyms: Α-L-Fucosidase Deficiency, Alpha-L-Fucosidase Deficiency, Mucopolysaccharidosis Type FStepienKarolina MMD, PhDkarolina.stepien@nca.nhs.ukJonesSimonMDsimon.jones@mft.nhs.ukWangRaymondMDrawang@choc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFukuyama Congenital Muscular DystrophySynonym: FCMDSaitoKayokoMD, PhDEmeritus Professor, Tokyo Women's Medical UniversityTokyo, Japansaito.kayoko@twmu.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nFumarate Hydratase DeficiencySynonyms: Fumarase Deficiency (FMRD), Fumaric AciduriaComanDavidMBBS, MPhil, FRACProfessor, Department of Metabolic MedicineQueensland Children's HospitalBrisbane, Australiadavid.coman@health.qld.gov.auKrancKamil RMD, DPhilLaboratory of Haematopoietic Stem Cell & Leukaemia BiologyCentre for Haemato-OncologyBarts Cancer InstituteQueen Mary University of LondonLondon, United Kingdomkamil.kranc@qmul.ac.ukChristodoulouJohnMBBS, PhDDirector, Genetics ResearchMurdoch Children's Research Institute;Chair of Genomic Medicine, Department of PaediatricsUniversity of MelbourneMelbourne, Australiajohn.christodoulou@mcri.edu.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nG6PC3 DeficiencySynonym: Ubiquitous Glucose-6-Phosphatase DeficiencyBankaSiddharthMD, MRCPCH, PhDManchester Centre for Genomic Medicine - Institute of Human DevelopmentFaculty of Medical and Human SciencesUniversity of Manchester;Manchester Centre for Genomic Medicine - Saint Mary's HospitalCentral Manchester University Hospitals NHS Foundation Trust;Manchester Academic Health Science CentreManchester, United Kingdomsiddharth.banka@manchester.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGAA-<italic toggle=\"yes\">FGF14</italic>-Related AtaxiaSynonyms: Spinocerebellar Ataxia 27B (SCA27B), FGF14 (GAA)n-Mediated Ataxia, GAA-FGF14 Ataxia, GAA-FGF14 Disease, GAA-FGF14-Related Disease, SCA27B/ATX-FGF14PellerinDavidMD, MSc, FRCPCdavid.pellerin.21@ucl.ac.ukDanziMattPhDm.danzi@med.miami.eduRenaudMathildeMD, PhDm.renaud2@chru-nancy.frHouldenHenryMD, PhDh.houlden@ucl.ac.ukSynofzikMatthisMDmatthis.synofzik@uni-tuebingen.deZuchnerStephanMD, PhDszuchner@med.miami.eduBraisBernardMDCM, MPhil, PhD, FRCPCbernard.brais@mcgill.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGabriele-de Vries SyndromeSynonym: YY1 Intellectual Disability SyndromeNabais SáMaria JMD, MPH, PhDmaria.nabaissa@radboudumc.nlGabrieleMicheleMS, PhDmichele.gabriele@ieo.itTestaGiuseppeMD, PhD, MAgiuseppe.testa@unimi.itgiuseppe.testa@ieo.itde VriesBert BAMD, PhDbert.devries@radboudumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GAN</italic>-Related NeurodegenerationOpalPuneetMD, PhDDepartment of NeurologyNorthwestern UniversityFeinberg School of MedicineChicago, Illinoisp-opal@northwestern.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GARS1</italic>-Associated Axonal NeuropathyMarkovitzRebeccaMD, PhDrebecca.markovitz@bcm.eduGhoshRajarshiPhDrajarshi.ghosh@nih.govLotzeTimothyMDtlotze@bcm.eduPotockiLorraineMDlpotocki@bcm.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GATA1</italic>-Related CytopeniaTakasakiKaoruMDInstructor, Department of PediatricsDivision of HematologyChildren's Hospital of PhiladelphiaPhiladelphia, Pennsylvaniatakasakik@chop.eduKacenaMelissa APhDProfessor and Vice Chair for Research, Department of Orthopaedic SurgeryIndiana University School of MedicineIndianapolis, Indianamkacena@iupui.eduRaskindWendy HMD, PhDProfessor, Departments of Medicine and Psychiatry and Behavioral SciencesUniversity of Washington Medical CenterSeattle, Washingtonwendyrun@uw.eduWeissMitchell JMD, PhDMember and Chairman,Department of HematologySt Jude Children's Research HospitalMemphis, Tennesseemitch.weiss@stjude.orgChouStella TMDAssociate Professor, Department of PediatricsUniversity of Pennsylvania School of Medicine;Division of HematologyChief, Division of Transfusion MedicineChildren's Hospital of PhiladelphiaPhiladelphia, Pennsylvaniachous@chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGaucher DiseaseSynonyms: Glucocerebrosidase Deficiency, Glucosylceramidase DeficiencyHughesDerralynn AMA, DPhil, FRCP, FRCPathProfessor of Experimental HaematologyDepartment of Academic HaematologyUniversity College Medical SchoolLondon, United Kingdomderralynnhughes@nhs.netPastoresGregory MMDClinical Professor, Medicine (Genetics)University CollegeDublin, Ireland\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GBE1</italic> Adult Polyglucosan Body DiseaseAkmanH OrhanPhDhoa2101@cumc.columbia.eduLossosAlexanderMDalos@hadassah.org.ilKakhlonOrPhDork@hadassah.org.il\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGeleophysic DysplasiaMarzinPaulineMDpauline.marzin@aphp.frCormier-DaireValérieMD, PhDvalerie.cormier-daire@inserm.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGeneralized Arterial Calcification of InfancySynonyms: GACI, Idiopathic Infantile Arterial Calcification (IIAC)ZieglerShira GMD, PhDsgziegler@jhmi.eduFerreiraCarlos RMDferreiracr@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGenetic Atypical Hemolytic-Uremic SyndromeSynonym: Familial Atypical Hemolytic-Uremic SyndromeNorisMarinaPhDmarina.noris@marionegri.itBresinElenaMDelena.bresin@marionegri.itMeleCaterinaBiol Sci Dcaterina.mele@marionegri.itRemuzziGiuseppeMDgiuseppe.remuzzi@marionegri.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGenetic Hearing Loss OverviewShearerA EliotMD, PhDeliot.shearer@childrens.harvard.eduHildebrandMichael SPhDmichael.hildebrand@unimelb.edu.auOdellAmanda MMS, LGCamanda-odell@uiowa.eduSmithRichard JHMDrichard-smith@uiowa.edu\n\nSummary\n\n Audiometric and Clinical Aspects of Hearing Loss\n\n Causes of Genetic Hearing Loss\n\n Differential Diagnosis of Genetic Hearing Loss\n\n Evaluation Strategy\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nGenetic Prion DiseaseZerrIngaMDingazerr@med.uni-goettingen.deSchmitzMatthiasMDmatthias.schmitz@med.uni-goettingen.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGenetic Steroid-Resistant Nephrotic Syndrome OverviewLipska-ZiętkiewiczBeata SMD, PhDCenter for Rare Diseases;Department of Biology and Medical GeneticsClinical Genetics UnitMedical University of GdańskGdańsk, Polandb.lipska@gumed.edu.pl\n\nSummary\n\n Clinical Characteristics of Genetic Steroid-Resistant Nephrotic Syndrome\n\n Causes of Genetic Steroid-Resistant Nephrotic Syndrome\n\n Evaluation Strategies to Identify the Cause of Genetic Steroid-Resistant Nephrotic Syndrome in a Proband\n\n Phenocopies of Genetic Steroid-Resistant Nephrotic Syndrome\n\n Management of Genetic Steroid-Resistant Nephrotic Syndrome\n\n Risk Assessment and Surveillance of At-Risk Relatives for Early Detection and Treatment of Genetic Steroid-Resistant Nephrotic Syndrome\n\nResources\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GJB1</italic> Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System PhenotypesAbramsCharles KMD, PhDDepartment of Neurology and RehabilitationUniversity of Illinois at Chicago College of MedicineChicago, Illinoiscabrams1@uic.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GJB2</italic>-Related Autosomal Recessive Nonsyndromic Hearing LossSmithRichard JHMDrichard-smith@uiowa.eduAzaiezHelaMS, PhDhela-azaiez@uiowa.eduBoothKevinPhDkevbooth@iu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GLB1-</italic>Related DisordersRegierDebra SMD, PhDMedical Director, Rare Disease InstituteChildren's National HospitalWashington, DCdregier@childrensnational.orgTifftCynthia JMD, PhDDeputy Clinical Director, National Human Genome Research InstituteNational Institutes of HealthBethesda, Marylandctifft@nih.govRothermelCaroline EBANational Human Genome Research InstituteNational Institutes of HealthBethesda, Marylandcaroline.rothermel@nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GLI3</italic>-Related Greig Cephalopolysyndactyly SyndromeBieseckerLeslie GMDlesb@mail.nih.govJohnstonJennifer JPhDjjohnsto@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GLI3</italic>-Related Pallister-Hall SyndromeBieseckerLeslie GMDCenter for Precision Health ResearchNational Human Genome Research InstituteNational Institutes of HealthBethesda, Marylandlesb@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGlucose Transporter Type 1 Deficiency SyndromeSynonyms: De Vivo Disease, Glut1 Deficiency Syndrome, Glut1DS, Glut1-DSWangDongMDdwang666888@gmail.comSandsTristanMD, PhDtts27@cumc.columbia.eduTangMaoxuePhDmt2877@cumc.columbia.eduMonaniUmraoPhDum2105@cumc.columbia.eduDe VivoDarrylMDdcd1@cumc.columbia.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGlutaric Acidemia Type 1Synonyms: GA-1, GCDH Deficiency, Glutaric Aciduria Type 1, Glutaryl-CoA Dehydrogenase DeficiencyLarsonAustinMDaustin.larson@childrenscolorado.orgCoughlinCurtisIIPhD, MScurtis.coughlin@childrenscolorado.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGlycogen Storage Disease Type IBaliDeeksha SPhDdbali@duke.eduEl-GharbawyAreegMDareeg.el-gharbawy@duke.eduAustinStephanieMS, MA, CGCsaustin@amicusrx.comPendyalSurekhaMSc, MEd, RD, FANDsurekha.pendyal@duke.eduKishnaniPriya SMDpriya.kishnani@duke.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGlycogen Storage Disease Type IIISynonyms: Cori Disease, Debrancher Deficiency, Forbes Disease, Glycogen Debranching Enzyme (GDE) DeficiencySchreuderAndrea BMD, PhDa.b.schreuder@umcg.nlRossiAlessandroMDalessandro.rossi@unina.itGrünertSarah CMDsarah.gruenert@uniklinik-freiburg.deDerksTerry GJMD, PhDt.g.j.derks@umcg.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGlycogen Storage Disease Type IVSynonyms: Andersen Disease, Glycogen Branching Enzyme Deficiency, Glycogen Storage Disease IV, GSD IVMagoulasPilar LMS, CGCBaylor College of MedicineTexas Children's HospitalHouston, Texasmagoulas@bcm.eduEl-HattabAyman WMD, FAAP, FACMGAssociate Professor, Department of Clinical SciencesCollege of MedicineUniversity of SharjahSharjah, United Arab Emirateselhattabaw@yahoo.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nGlycogen Storage Disease Type VSynonyms: Glycogenosis Type V, GSDV, McArdle Disease, Muscle Glycogen Phosphorylase Deficiency, Myophosphorylase Deficiency, PYGM DeficiencyMartínMiguel APhDmamcasanueva.imas12@h12o.esLuciaAlejandroMD, PhDalejandro.lucia@universidadeuropea.esArenasJoaquinPhDjoaquin.arenas@salud.madrid.orgAndreuAntonio LMD, PhDtoniandreu.bcn@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGlycogen Storage Disease Type VISynonym: GSD VISallagoJulieta BonvinMD, MSjbonvinsallago@connecticutchildrens.orgWeinsteinDavid AMD, MMScweinstein@uchc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGM2 Activator DeficiencySynonyms: GM2 Gangliosidosis, AB Variant; Hexosaminidase Activator Deficiency; Tay-Sachs Variant ABXiaoChangruiMDchangrx@hs.uci.eduToroCamiloMDtoroc@mail.nih.govTifftCyndiMD, PhDcynthiat@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGM3 Synthase DeficiencySynonyms: Amish Infantile Epilepsy Syndrome, Salt and Pepper Developmental Regression Syndrome, ST3GAL5-CDG, ST3GAL5 DeficiencyCruzVincentMD, MSvcruz@ddcclinic.orgXinBaozhongPhDbxin@ddcclinic.orgWangHengMD, PhDwang@ddcclinic.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GNAI1</italic>-Related Neurodevelopmental DisorderBonkowskiEmilyScM, CGCemily.bonkowski@stjude.orgFathiEsmatPhDesmat.fathi@stjude.orgMeffordHeather CMD, PhDheather.mefford@stjude.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GNAO1</italic>-Related DisorderSynonyms: GNAO1-Associated Disorder, GNAO1-Associated Epileptic Encephalopathy and Movement DisorderBriereLaurenMSlbriere@mgh.harvard.eduThielMoritzMDmoritz.thiel@uk-koeln.deSweetserDavid AMD, PhDdsweetser@mgh.harvard.eduKoyAnneMDanne.koy@uk-koeln.deAxeenErikaMDeta2h@virginia.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GNB1</italic> EncephalopathyRevah-PolitiAnyaMS, CGCar3594@cumc.columbia.eduSandsTristan TMD, PhDtts27@cumc.columbia.eduColomboSophieMS, PhDGoldsteinDavid BPhDAnyane-YeboaKwameMD, FACMGka8@cumc.columbia.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GNB5</italic>-Related Neurodevelopmental DisorderSynonyms: Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA) Syndrome, Language Delay and ADHD / Cognitive Impairment with or without Cardiac Arrhythmia (LADCI)PokeGemmaBSc, MBBSgemma.poke@otago.ac.nzSadleirLynette GrantMBChBlynette.sadleir@otago.ac.nzMerlaGiuseppegiuseppe.merla@unina.itde Valles-IbáñezGuillemBSc, MSc, PhDguille.devallesibanez@otago.ac.nzSkinnerJonathan RobertMB ChB, MRCP(UK), FRACP, FHRS, MDjskinner@adhb.govt.nz\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GNE</italic> MyopathySynonyms: Distal Myopathy with Rimmed Vacuoles (DMRV), Hereditary Inclusion Body Myopathy (HIBM), Inclusion Body Myopathy Type 2 (IBM2), Nonaka Myopathy, Quadriceps-Sparing MyopathyCarrilloNuriaMDcarrilln@mail.nih.govMalicdanMay ChristineMD, PhDmaychristine.malicdan@nih.govHuizingMarjanPhDmhuizing@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GNPTAB</italic>-Related DisordersLeroyJules GMD, PhDCatheySara SMD, FACMGFriezMichael JPhD\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GRIA2</italic>-Related Neurodevelopmental DisorderEfthymiouStephanieMSc, PhDs.efthymiou@ucl.ac.ukRumbos SiuranaElisaMScelisa.siurana.17@ucl.ac.ukSalpietroVincenzoMDv.salpietro@ucl.ac.ukBayatAllanabaya@filadelfia.dkHouldenHenryMD, PhDh.houlden@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GRIN1</italic>-Related Neurodevelopmental DisorderSynonym: GRIN1-Related Developmental and Epileptic EncephalopathyPlatzerKonradMDkonrad.platzer@medizin.uni-leipzig.deLemkeJohannes RMDjohannes.lemke@medizin.uni-leipzig.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GRIN2A</italic>-Related DisordersStrehlowVincentMDvincent.strehlow@medizin.uni-leipzig.deMyersKenneth AMD, PhD, FRCPCsfu.ken1@gmail.comMorganAngela TBSpPath(Aud Hons), PhD, CPSPamor@unimelb.edu.auSchefferIngrid EMBBS, PhD, FRACP, FAA, FAHMS, FRSi.scheffer@unimelb.edu.auLemkeJohannes R.MDjohannes.lemke@medizin.uni-leipzig.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GRIN2B</italic>-Related Neurodevelopmental DisorderSynonym: GRIN2B EncephalopathyPlatzerKonradMDkonrad.platzer@medizin.uni-leipzig.deLemkeJohannes RMDjohannes.lemke@medizin.uni-leipzig.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GRIN2D</italic>-Related Developmental and Epileptic EncephalopathyPlatzerKonradMDkonrad.platzer@medizin.uni-leipzig.deKreyIlonaMDilona.krey@medizin.uni-leipzig.deLemkeJohannes RMDjohannes.lemke@medizin.uni-leipzig.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GRN</italic> Frontotemporal DementiaSynonym: FTD-GRNHsiungGing-Yuek RobinMD, MHSc, FRCPCAssociate Professor, Division of NeurologyFaculty of MedicineUniversity of British Columbia and Providence Health CareVancouver, British Columbia, Canadahsiung@mail.ubc.caFeldmanHoward HMD, CM, FRCPCProfessor, Division of NeurologyFaculty of MedicineUniversity of British ColumbiaVancouver, British Columbia, Canadahoward.feldman@ubc.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nGTP Cyclohydrolase 1-Deficient Dopa-Responsive DystoniaSynonyms: Autosomal Dominant Dopa-Responsive Dystonia, Autosomal Dominant Segawa Syndrome, DYT5a, Hereditary Progressive Dystonia with Marked Diurnal FluctuationFurukawaYoshiakiMD, PhDChairman, Department of NeurologyVice President, Juntendo Tokyo Koto Geriatric Medical CenterProfessor, Department of NeurologyFaculty of MedicineJuntendo UniversityTokyo, Japanfurukawa@juntendo.gmc.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">HAMP</italic>- and <italic toggle=\"yes\">HJV</italic>-Related HemochromatosisMarianiRaffaellaMD, PhDraffaella.mariani@irccs-sangerardo.itBertolaFrancescaPhDfrancescadaniela.bertola@irccs-sangerardo.itPipernoAlbertoMDalberto.piperno@unimib.it\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHand-Foot-Genital SyndromeSynonyms: HFGS, HFG SyndromeInnisJeffrey WMD, PhDProfessor, Human Genetics, Pediatrics and Internal MedicineDirector, Division of Pediatric Genetics, Metabolism and Genomic MedicineUniversity of MichiganDirector, Michigan Medical Genetics LaboratoriesAnn Arbor, Michiganinnis@umich.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nHaploinsufficiency of A20Synonym: HA20DeuitchNatalie TMS, CGCnatalie.deuitch@nih.govSchwartzDaniella MMDdaniella.schwartz@pitt.eduAksentijevichIvonaMDaksentii@arb.niams.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHemophilia ASynonym: Factor VIII DeficiencyKonkleBarbara AMDDirector, Bleeding Disorders LaboratoryBloodworks Northwest; Hematologist, Washington Center for Bleeding Disorders;Professor Emeritus of MedicineUniversity of WashingtonSeattle, Washingtonkonkleb@uw.eduNakaya FletcherShelleyBSManager, Bleeding Disorders LaboratoryBloodworks NorthwestSeattle, Washingtonshelleyn@bloodworksnw.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHemophilia BSynonyms: Christmas Disease, Factor IX DeficiencyKonkleBarbara AMDDirector, Bleeding Disorders LaboratoryBloodworks Northwest; Hematologist, Washington Center for Bleeding Disorders;Professor Emeritus of MedicineUniversity of WashingtonSeattle, Washingtonkonkleb@uw.eduNakaya FletcherShelleyBSManager, Bleeding Disorders LaboratoryBloodworks NorthwestSeattle, Washingtonshelleyn@bloodworksnw.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nKey Sections in this <italic toggle=\"yes\">GeneReview</italic>\n\nReferences\n\nHepatic Veno-Occlusive Disease with ImmunodeficiencySynonym: VODIWongMelanieMBBS, FRACP, FRCPA, PhDClinical Immunologist and ImmunopathologistThe Children's Hospital at WestmeadSydney, Australiamelanie.wong@health.nsw.gov.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHepatoerythropoietic PorphyriaSynonym: UROD-Related Hepatoerythropoietic PorphyriaRudnickSeanMDsrudnick@wakehealth.eduPhillipsJohnPhDjohn.phillips@hsc.utah.eduBonkovskyHerbertMDhbonkovs@wakehealth.eduPorphyrias Consortium of the Rare Diseases Clinical Research Network\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Ataxia OverviewPerlmanSusanMDDavid Geffen School of MedicineUniversity of California Los AngelesLos Angeles, Californiasperlman@mednet.ucla.edu\n\nSummary\n\n Clinical Characteristics of Primary Hereditary Ataxia\n\n Causes of Hereditary Ataxia\n\n Evaluation Strategies to Identify the Genetic Cause of Hereditary Ataxia in a Proband\n\n Management of Hereditary Ataxia\n\n Genetic Counseling of Family Members of an Individual with Hereditary Ataxia\n\nResources\n\nChapter Notes\n\nLiterature Cited\n\nHereditary CoproporphyriaWangBruceMDUniversity of California San Francisco\nSan Francisco, Californiabruce.wang@ucsf.eduBissellD MontgomeryMDUniversity of California San Francisco\nSan Francisco, Californiamontgomery.bissell@ucsf.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Distal Renal Tubular AcidosisSynonyms: Classic Renal Tubular Acidosis, Type 1 RTAAlexanderR ToddMD, PhDUniversity of AlbertaEdmonton, Canadatodd2@ualberta.caGil-PeñaHelenaPhDHospital Universitario Central de Asturias;Instituto de Investigación Sanitaria del Principado de AsturiasOviedo, Spainhelena.gil@sespa.esGreenbaumLarry AMD, PhDEmory University;Children’s Healthcare of AtlantaAtlanta, Georgialgreen6@emory.eduSantosFernandoMD, PhDUniversity of Oviedo;Hospital Universitario Central de AsturiasOviedo, Spainfsantos@uniovi.es\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary FibrosisSynonym: POIKTMPMercierSandraMD, PhDsandra.mercier@chu-nantes.frKürySébastienDVM, PhDsebastien.kury@chu-nantes.frBarbarotSébastienMD, PhDsebastien.barbarot@chu-nantes.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Folate MalabsorptionSynonym: Congenital Folate MalabsorptionGoldmanI DavidMDDepartments of Medicine, Oncology, and Molecular PharmacologyAlbert Einstein College of MedicineBronx, New Yorki.david.goldman@einsteinmed.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Fructose IntoleranceGaughanSommerRD, CSPChildren's Hospital ColoradoAurora, Coloradosommer.gaughan@childrenscolorado.orgAyresLachlanMB, ChB, MRCPUniversity Hospitals DorsetDorset, United Kingdomlachlan.ayres@uhd.nhs.ukBakerPeter RIIMD, FAAP, FACMGChildren's Hospital Colorado;University of Colorado School of MedicineAurora, Coloradopeter.baker@childrenscolorado.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Hemorrhagic TelangiectasiaSynonyms: HHT, Osler-Weber-Rendu DiseaseMcDonaldJamieMS, CGCDepartment of PathologyUniversity of Utah Medical CenterSalt Lake City, Utahjamie.mcdonald@hsc.utah.eduGossageJames RMDAugusta UniversityAugusta, Georgiajgossage@augusta.eduStevensonDavid AMDDivision of Medical GeneticsDepartment of PediatricsStanford UniversityStanford, Californiadasteven@stanford.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Hyperekplexia OverviewBalintBettinaMDb.balint@ucl.ac.ukThomasRhysPhD, FRCPrhys.thomas@ncl.ac.uk\n\nSummary\n\n Hereditary Hyperekplexia: Clinical Characteristics\n\n Hereditary Hyperekplexia: Causes\n\n Hereditary Hyperekplexia: Evaluation Strategy to Identify the Genetic Cause in a Proband\n\n Hereditary Hyperekplexia: Management\n\n Hereditary Hyperekplexia: Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nHereditary Motor and Sensory Neuropathy with Agenesis of the Corpus CallosumSynonyms: Agenesis of Corpus Callosum with Peripheral Neuropathy (ACCPN), Andermann SyndromeGauvreauClaudieMD, MScNeurology resident, CHU de Québec – Enfant-JésusLaval UniversityQuebec City, Canadaclaudie.gauvreau.2@ulaval.caBrissonJean-DenisMD, FRCP(C)Neurologist, Groupe de Recherche Interdisciplinaire sur les Maladies NeuromusculairesCentre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-Saint-Jean;Sherbrooke UniversityQuebec, Canadajean-denis.brisson@usherbrooke.caDupréNicolasMD, MSc, FRCP(C)Neurologist, Neurogenetics ClinicDepartment of Neurological SciencesCHA – Enfant-JésusQuebec City, Canadanicolas.dupre@chudequebec.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Multiple OsteochondromasSynonyms: Bessel-Hagen Disease, Diaphyseal Aclasis, Hereditary Multiple Exostoses (HME), Multiple Cartilaginous Exostoses, Multiple Hereditary Exostoses (MHE)SefcikRyanMDryan.sefcik@childrenscolorado.orgEarlDawnARNPdawn.earl@seattlechildrens.orgThorpeStevenMDsteven.thorpe@childrenscolorado.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Myopathy with Early Respiratory FailureSynonyms: HMERF, MFM-Titinopathy, Myofibrillar Myopathy with Early Respiratory FailurePfefferGeraldMD, CM, FRCPC, PhDHotchkiss Brain InstituteUniversity of CalgaryCalgary, Canadagerald.pfeffer@ucalgary.caChinneryPatrick FBMedSci, MBBS, PhD, FRCPath, FRCP, FMedSciDepartment of Clinical NeurosciencesUniversity of CambridgeCambridge, United Kingdompfc25@medschl.cam.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Nephrogenic Diabetes InsipidusKnoersNineMD, PhDDepartment of GeneticsUniversity Medical Center GroningenGroningen, the Netherlandsv.v.a.m.knoers@umcg.nlLemminkHennyPhDDepartment of GeneticsUniversity Medical CenterGroningen, the Netherlandsh.h.lemmink@umcg.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Neuropathy with Liability to Pressure PalsiesSynonym: HNPPChrestianNicolasMD, FRCPC, CSCNCHU Laval–CHU de Québec;Centre de Recherche du CHUQuébec City, Québec, Canadanicolas.chrestian.1@ulaval.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Paraganglioma-Pheochromocytoma SyndromesElseTobiasMDAssociate Professor, Division of Metabolism, Endocrinology, and DiabetesDepartment of Internal MedicineUniversity of MichiganAnn Arbor, Michigantelse@med.umich.eduGreenbergSamanthaMS, MPH, CGCDirector, UT Southwestern Genetic Counseling Program;Assistant Professor, Department of Health Care SciencesUT Southwestern Medical CenterDallas, Texassamantha.greenberg@utsouthwestern.eduFishbeinLaurenMD, PhD, MTRAssociate Professor, Division of Endocrinology, Metabolism and Diabetes;Department of Medicine; Department of Biomedical InformaticsUniversity of Colorado School of MedicineAurora, Coloradolauren.fishbein@cuanschutz.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Sensory and Autonomic Neuropathy Type IISynonyms: Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2), HSANIIKurthIngoMDInstitute of Human GeneticsUniklinik RWTH AachenAachen, Germanyikurth@ukaachen.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHereditary Transthyretin AmyloidosisSynonyms: ATTRv Amyloidosis, Familial Amyloid Polyneuropathy, Familial Transthyretin Amyloidosis, hATTR, Hereditary Amyloidogenic Transthyretin Amyloidosis, Hereditary ATTR Amyloidosis, Hereditary Transthyretin-Mediated AmyloidosisSekijimaYoshikiMD, PhDsekijima@shinshu-u.ac.jpNakamuraKatsuyaMD, PhDkatsuya@shinshu-u.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHeritable Pulmonary Arterial Hypertension OverviewGeigerHanabihanabi.u.geiger@vanderbilt.eduTinkerRory JMDrory.tinker@mssm.eduTalbertJanetMS, CGCjanet.talbert@vumc.orgPhillipsJohn AIIIMD no PhDjohn.a.phillips@vumc.orgAustinEric DMD, MSCIeric.austin@vumc.org\n\nSummary\n\n Clinical Characteristics of Heritable Pulmonary Arterial Hypertension\n\n Genetic Causes of Heritable Pulmonary Arterial Hypertension\n\n Differential Diagnosis of Heritable Pulmonary Arterial Hypertension\n\n Evaluation Strategies to Identify the Genetic Cause of Heritable Pulmonary Arterial Hypertension in a Proband\n\n Management of Heritable Pulmonary Arterial Hypertension\n\n Genetic Risk Assessment\n\nResources\n\nChapter Notes\n\nReferences\n\nHeritable Thoracic Aortic Disease OverviewMilewiczDianna MMD, PhDdianna.m.milewicz@uth.tmc.eduCecchiAlana CMS, CGCalana.c.cecchi@uth.tmc.edu\n\nSummary\n\n Clinical Characteristics of Thoracic Aortic Disease\n\n Causes of Heritable Thoracic Aortic Disease\n\n Evaluation and Genetic Risk Assessment for Heritable Thoracic Aortic Disease in a Proband\n\n Management\n\n Genetic Risk Assessment and Cascade Testing in Family Members of a Proband\n\nResources\n\nChapter Notes\n\nReferences\n\nHermansky-Pudlak SyndromeIntroneWendy JMDwintrone@nhgri.nih.govHuizingMarjanPhDmhuizing@mail.nih.govMalicdanMay Christine VMD, PhDmaychristine.malicdan@nih.govO'BrienKevin JRN, MS-CRNPobrienke@mail.nih.govGahlWilliam AMD, PhDgahlw@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">HEXA</italic> DisordersSynonyms: Beta-Hexosaminidase A Deficiency; GM2 Gangliosidosis, Type I; Tay-Sachs DiseaseToroCamiloMDtoroc@mail.nih.govShirvanLeilaBAleila.shirvan@nih.govTifftCynthiaMD, PhDcynthiat@mail.nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">HFE-</italic>Related HemochromatosisSynonym: HFE-Associated HemochromatosisBartonJames CMDUniversity of Alabama at Birmingham;Southern Iron Disorders CenterBirmingham, Alabamabartonjames336@gmail.comParkerCharles JMDDivision of Hematology and Hematologic MalignanciesUniversity of Utah School of MedicineSalt Lake City, Utahcharles.parker@hsc.utah.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHidrotic Ectodermal Dysplasia 2Synonym: Clouston SyndromeMellerioJemimaBSc, MB BS, MD, FRCPjemima.mellerio@kcl.ac.ukGreenblattDanielleMB ChB, FRCPdanielle.greenblatt@gstt.nhs.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHirschsprung Disease Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLYSynonyms: Aganglionic Megacolon, HSCRParisiMelissa AMD, PhDEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institutes of HealthBethesda, Marylandparisima@mail.nih.gov\n\nSummary\n\nDefinition\n\nCauses\n\nEvaluation Strategy\n\nGenetic Counseling\n\nResources\n\nManagement\n\nReferences\n\nChapter Notes\n\nHIST1H1E SyndromeSynonym: Rahman SyndromeBurkardtDeepikaDOburkardtdd@nih.govTatton-BrownKatrinaMDk.tattonbrown@nhs.net\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">HNRNPH2</italic>-Related Neurodevelopmental DisorderSynonyms: Bain Type Syndromic Intellectual Disability; X-Linked Syndromic Intellectual Developmental Disorder, Bain TypeMadhokSehajvirMDChild NeurologyNew York-PresbyterianColumbia University Irving Medical CenterNew York, New Yorksm5168@cumc.columbia.eduBainJenniferMD, PhDColumbia University Irving Medical CenterNew York, New Yorkjb3634@cumc.columbia.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">HNRNPU</italic>-Related Neurodevelopmental DisorderSynonyms: Developmental and Epileptic Encephalopathy 54, Early Infantile Epileptic Encephalopathy Type 54BalasubramanianMeenaMBBS, DCH, FRCPCH, MDSenior Clinical Lecturer, Department of Oncology & MetabolismUniversity of SheffieldConsultant Clinical Geneticist, Sheffield Clinical Genetics ServiceLead Consultant, OI-Genetics ServiceHighly Specialised Severe, Complex & Atypical OI ServiceSheffield Children's NHS Foundation Trustmeena.balasubramanian@nhs.netm.balasubramanian@sheffield.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHoloprosencephaly OverviewTekendo-NgongangCedrikMDcedrik.ngongang@nih.govMuenkeMaximilianMD, FACMGmmuenke@acmg.netKruszkaPaulMD, MPHpaul.kruszka@nih.gov\n\nSummary\n\n Clinical Characteristics of Holoprosencephaly\n\n Genetic Causes of Holoprosencephaly\n\n Evaluation Strategies to Identify the Genetic Cause of Holoprosencephaly in a Proband\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nHolt-Oram SyndromeSynonym: Heart-Hand SyndromeVanlerbergheClémenceMD, PhDclemence.vanlerberghe@chu-lille.frPetitFlorenceMD, PhDflorence.petit@chu-lille.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHomocystinuria due to Cystathionine Beta-Synthase DeficiencySynonym: Classic HomocystinuriaSacharowStephanie JMDstephanie.sacharow@childrens.harvard.eduLevyHarvey LMDharvey.levy@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHomocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase ActivitySynonym: Homocystinuria due to MTHFR DeficiencyUmairMuhammadMS, PhDMedical Genomics Research DepartmentKing Abdullah International Medical Research Center (KAIMRC)King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS)Ministry of National Guard Health Affairs (MNGHA)Riyadh, Saudi Arabiaumairmu@mngha.med.saAlfadhelMajidMD, MHSc, SSC-Ped, ABHS(CH), FCCMGGenetics and Precision Medicine DepartmentKing Abdullah Specialized Children Hospital (KASCH)King Abdulaziz Medical CityMinistry of National Guard Health Affairs (MNGHA)Riyadh, Saudi Arabiadralfadhelm@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">HOXA1</italic>-Related DisordersJacobPrinceMSc, PhDDepartment of Medical GeneticsJSS Medical College and JSS HospitalJSS Academy of Higher Education and ResearchMysuru, Indiaprincejacob@jssuni.edu.inBhatVenkatramanMDDepartment of RadiologyMazumdar Shaw Medical Centre / Narayana Hrudayalaya HospitalsBangalore, Indiabvenkatraman@gmail.comPatilSiddaramappa JMD, DMDivision of Medical GeneticsMazumdar Shaw Medical Centre / Narayana Hrudayalaya HospitalsBangalore, Indiadrsjpatil@gmail.com\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">HPRT1</italic> DisordersSynonyms: HGprt Deficiency, HPRT Deficiency, Hypoxanthine-Guanine Phosphoribosyltransferase DeficiencyJinnahHyder AMD, PhDProfessor, Departments of Neurology & Human Genetics\nEmory University School of Medicine\nAtlanta, Georgiahjinnah@emory.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">HRAS</italic>-Related Costello SyndromeGrippKaren WMD, FAAP, FACMGkgripp@nemours.orgWeaverK NicoleMD, FAAP, FACMGkathryn.weaver@cchmc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">HTRA1</italic> DisorderSynonym: CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)OnoderaOsamuMD, PhDonodera@bri.niigata-u.ac.jpNozakiHiroakiMD, PhDnozak@bri.niigata-u.ac.jpFukutakeToshioMD, PhDfukutake.toshio@kameda.jp\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHuntington DiseaseSynonym: Huntington ChoreaCaldeira BrásInêsPhDibras@cmmt.ubc.caDawsonJessicaPhDjdawson@cmmt.ubc.caKayChrisPhDckay@cmmt.ubc.caCaronNicholas SPhDncaron@cmmt.ubc.caHaydenMichael RMB, ChB, PhD, FRCP(C), FRSCmrh@cmmt.ubc.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHuntington Disease-Like 2AndersonDavid GMBBCh, FCN, MMed, PhDConsultant NeurologistQueen Elizabeth University Hospital;Honorary Senior LecturerUniversity of GlasgowGlasgow, Scotland, United Kingdomdave.anderson.2@glasgow.ac.ukKrauseAmandaMBBCh, PhDHead, Division of Human GeneticsNational Health Laboratory Service and School of PathologyFaculty of Health SciencesUniversity of the WitwatersrandJohannesburg, South Africaamanda.krause@wits.ac.zaMargolisRussell LMDABCD Charitable Trust Professor of SchizophreniaProfessor of Psychiatry and NeurologyLaboratory of Genetic NeurobiologyDivision of NeurobiologyDepartment of PsychiatryJohns Hopkins University School of MedicineBaltimore, Marylandrmargoli@jhmi.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHuppke-Brendel SyndromeParayil SankaranBinduMD, DM, FRACP, PhDbindu.parayilsankaran@health.nsw.gov.audpsbindu@yahoo.co.inChiplunkarShwethaMBBS, PhD, MRCGPVandanaVPPhDNagappaMadhuMD, DMGovindarajPeriyasamyPhDTalyABMD, DM\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHutchinson-Gilford Progeria SyndromeGordonLeslie BMD, PhDDepartment of PediatricsAlpert Medical School of Brown UniversityProvidence, Rhode Islandlgordon@progeriaresearch.orgBrownW TedMD, PhDInstitute for Basic Research in Developmental DisabilitiesStaten Island, New Yorkwtbibr@aol.comCollinsFrancis SMD, PhDSenior Investigator, National Institutes of HealthBethesda, Marylandfrancis.collins@nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHYAL2 DeficiencySynonym: Orofacial Clefting and Cor Triatriatum Sinister SyndromeFashamJamesBSc, MBChB, PhDj.fasham@exeter.ac.ukWengerOlivia KMDowenger@newleafclinic.orgCrosbyAndrew HBSc,PhDa.h.crosby@exeter.ac.ukBapleEmma LBSc, MBBS, MRCPCH, PhDe.baple@exeter.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHyaline Fibromatosis SyndromeSynonyms: ANTXR2-Related Hyaline Fibromatosis Syndrome, Inherited Systemic HyalinosisShiehJoseph TCMD, PhDDivision of Medical GeneticsDepartment of PediatricsBenioff Children’s HospitalUniversity of California San FranciscoSan Francisco, Californiajoseph.shieh2@ucsf.eduHoymeH EugeneMDDepartment of PediatricsSanford School of MedicineUniversity of South DakotaSanford Children's HospitalSioux Falls, South DakotaArbourLaura TMDDepartment of Medical GeneticsIsland Medical ProgramUniversity of British ColumbiaVictoria, British Columbia, Canada\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHyperkalemic Periodic ParalysisSynonyms: HyperKPP, HyperPP, HYPPWeberFrankMD, PhDDepartment of NeurologyGerman Air Force Center of Aviation MedicineFürstenfeldbruck, Germanyfrankweber@bundeswehr.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHypermanganesemia with Dystonia 1Synonyms: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; HMNDYT1TuschlKarinMDk.tuschl@ucl.ac.ukClaytonPeter TMDpeter.clayton@ucl.ac.ukGospeSidney MJrMD, PhDsgospe@uw.eduMillsPhilippa BPhDp.mills@ucl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHypermobile Ehlers-Danlos SyndromeSynonyms: Ehlers-Danlos Syndrome Hypermobility Type, Ehlers-Danlos Syndrome Type III, hEDSHakimAlanBA, MBBChir, MAThe Harley Street ClinicHCA HealthcareLondon UKalan.hakim@ehlers-danlos.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHyperornithinemia-Hyperammonemia-Homocitrullinuria SyndromeSynonym: HHH Syndrome, ORNT1 DeficiencyCamachoJoseMDLoma Linda University HealthLoma Linda, Californiajocamacho@llu.eduRioseco-CamachoNataliaBAnrioseco@hotmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHyperphosphatemic Familial Tumoral CalcinosisSynonyms: Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome (FTC/HHS), HFTC, Hyperostosis-Hyperphosphatemia Syndrome, Primary Hyperphosphatemic Tumoral CalcinosisRamnitzMary ScottMDramnitzms@nidcr.nih.govGafniRachel IMDgafnir@nidcr.nih.govCollinsMichael TMDmcollins@dir.nidcr.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nHypochondroplasiaBoberMichael BMD, PhDAlfred I duPont Hospital for ChildrenWilmington, Delawaremichael.bober@nemours.orgmikebbober@yahoo.comBellusGary AMD, PhDGeisinger Health SystemDanville, Pennsylvaniagbellus@geisinger.eduCheungMoira SMD, PhDGreat Ormond Street HospitalLondon, United Kingdommoira.cheung@gosh.nhs.ukJainMahimMD, PhDNemours Children’s HospitalWilmington, Delawaremahim.jain@nemours.orgNikkelSarah MMDBC Women’s and Children’s HospitalVancouver, Canadasarah.nikkel@cw.bc.caTillerGeorge EMD, PhDSouthern California Permanente Medical GroupLos Angeles, Californiageorge.e.tiller@kp.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHypohidrotic Ectodermal DysplasiaSynonyms: Anhidrotic Ectodermal Dysplasia, Christ-Siemens-Touraine SyndromeWrightJ TimothyDDS, MSDistinguished Bawden Professor, Department of Pediatric DentistryUniversity of North CarolinaChapel Hill, North Carolinatim_wright@unc.eduGrangeDorothy KMDProfessor of Pediatrics, Division of Genetics and Genomic MedicineDepartment of PediatricsWashington University School of MedicineSt Louis, Missourigrangedk@wustl.eduFeteMaryMSN, RN, CCMExecutive Director, National Foundation for Ectodermal DysplasiasMascoutah, Illinoismary@nfed.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHypokalemic Periodic ParalysisSynonyms: HOKPP, HypoPPWeberFrankMD, PhDDepartment of NeurologyGerman Air Force Institute of Aviation MedicineFürstenfeldbruck, Germanyfrankweber@bundeswehr.orgLehmann-HornFrankMD, PhD, MSNeurophysiologyUlm UniversityUlm, Germanyfrank.lehmann-horn@uni-ulm.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nHypomyelination and Congenital CataractWolfNicole IMD, PhDn.wolf@amsterdamumc.nlBiancheriRobertaMD, PhDZaraFedericoPhDBrunoClaudioMD, PhDGazzerroElisabettaMDRossiAndreaMDvan der KnaapMarjo SMD, PhDMinettiCarloMD\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nHypophosphatasiaDahirKathryn MMDProgram for Metabolic Bone DisordersVanderbilt University Medical CenterNashville, Tennesseekathryn.dahir@vumc.orgNunesMark EMDDirector of Genetics, Genomics, and MetabolismCure 4 the Kids FoundationLas Vegas, Nevadamnunes@cure4thekids.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nIDEDNIK SyndromeSynonyms: Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma Syndrome; Keratitis-Ichthyosis-Deafness, Autosomal Recessive (KIDAR) Syndrome; MEDNIK Syndrome; MEDNIK-like SyndromeAlsaifHessa SMScAdvanced Diagnostics and Therapeutics InstituteHealth SectorKing Abdulaziz City for Science and Technology (KACST)Riyadh, Saudi Arabiahalsaif@kacst.gov.saAlkurayaFowzan SMDDepartment of Translational GenomicsCenter for Genomic MedicineKing Faisal Specialist Hospital and Research CenterRiyadh, Saudi ArabiaFAlKuraya@kfshrc.edu.sa\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nIMAGe SyndromeSynonym: Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital AnomaliesSchrier VerganoSamantha AMDDivision of Medical Genetics and Metabolism\nDepartment of Pediatrics\nChildren’s Hospital of the King’s Daughters\nEastern Virginia Medical School\nNorfolk, Virginiasamantha.vergano@chkd.orgDeardorffMatthew AMD, PhDDepartments of Pathology and Pediatrics\nChildren's Hospital Los Angeles\nUniversity of Southern California\nKeck School of Medicine\nLos Angeles, Californiamdeardorff@chla.usc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nInclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal DementiaSynonyms: IBMPFD, Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia, Multisystem ProteinopathyKimonisVirginiaMDProfessor of Pediatrics, Division of Genetics and Genomic MedicineUniversity of California Irvine Medical CenterOrange, Californiavkimonis@uci.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nIncontinentia PigmentiSynonym: Bloch-Sulzberger SyndromeScheuerleAngela EMD, FAAP, FACMGDivision of Genetics and MetabolismDepartment of PediatricsUniversity of Texas Southwestern Medical CenterDallas, Texasangela.scheuerle@utsouthwestern.eduUrsiniMatilde ValeriaPhDDepartment of Molecular and Human GeneticsInstitute of Genetics and BiophysicsNational Research CouncilNaples, Italyursini@igb.cnr.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">INPPL1</italic>-Related OpsismodysplasiaHuangSamuelMDMarshfield ClinicMarshfield, Wisconsinhuang.samuel@marshfieldclinic.orgEarlDawnARNPSeattle Children's HospitalSeattle, Washingtondawn.earl@seattlechildrens.orgWhiteKlaneMDChildren's Hospital of ColoradoAurora, Coloradoklane.white@childrenscolorado.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">INSR</italic>-Related Severe Insulin Resistance SyndromeMesikaAvivavivmasika@gmail.comKlarAharonMDaklar@inter.net.ilFalik ZaccaiTzipora CMDfalikmd.genetics@gmail.com\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nIPEX SyndromeSynonym: Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked SyndromeTanQueenie K-GMD, PhDtan.khoongheequeenie@mayo.eduLouieRaymond JPhDrlouie@ggc.orgSleasmanJohn WMDjohn.sleasman@duke.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">IRF2BPL</italic>-Related DisorderSynonyms: NEDAMSS (Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss of Speech, and Seizures); IRF2BPL Mutation SyndromeVanagunasTomasMD, PhDtomas.vanagunas2@emory.eduUlm SeiwertElizabethMS, CGCelizabeth.ulm@cchmc.orgLarshTravis RMDtravis.larsh@cchmc.orgMarcogliesePaul CPhDpaul.marcogliese@umanitoba.caPenaLoren DMMD, PhDloren.pena@alumni.duke.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">IRF6</italic>-Related DisordersSchutteBrian CPhDDepartment of Microbiology and Molecular Genetics\nDepartment of Pediatrics and Human Development\nMichigan State University\nEast Lansing, Michiganschutteb@msu.eduSaalHoward MMD, FACMGDivision of Human Genetics\nCincinnati Children’s Hospital Medical Center;\nDepartment of Pediatrics\nUniversity of Cincinnati\nCincinnati, Ohiohoward.saal@cchmc.orgGoudyStevenMD, FACS, FAAPDepartment of Otolaryngology\nVanderbilt University\nNashville, Tennesseesteven.goudy@vanderbilt.eduLeslieElizabeth JPhDAssistant Professor\nDepartment of Human Genetics\nEmory University\nAtlanta, Georgiaejlesli@emory.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ISCA1</italic>-Related Multiple Mitochondrial Dysfunctions SyndromeSynonym: Multiple Mitochondrial Dysfunctions Syndrome 5ShuklaAnjuMD, DMAssociate Professor, Department of Medical Genetics\nKasturba Medical College\nManipal Academy of Higher Education\nManipal, Indiaanju.shukla@manipal.eduNarayananDhanya LakshmiMD, DMAssistant Professor, Department of Medical Genetics\nKasturba Medical College\nManipal Academy of Higher Education\nManipal, Indiadhanya.lakshmi@manipal.eduKaurParneetMScPhD Student, Department of Medical Genetics\nKasturba Medical College\nManipal Academy of Higher Education\nManipal, Indiaparneetkaurgenetics@gmail.comGirishaKatta MohanMD, DMProfessor, Department of Medical Genetics\nKasturba Medical College\nManipal Academy of Higher Education\nManipal, Indiagirish.katta@manipal.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ISCA2</italic>-Related Mitochondrial DisorderSynonym: Multiple Mitochondrial Dysfunction Syndrome 4Al-HassnanZuhair NMDzhassnan@kfshrc.edu.saKayaNamikPhDnkaya@kfshrc.edu.sa\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nIsolated and Classic Cutis Marmorata Telangiectatica CongenitaSynonym: Van Lohuizen SyndromeTamburroJoanDODepartment of DermatologyCleveland ClinicCleveland, Ohiotamburj@ccf.orgTraboulsiElias IMD, MEdProfessor of Ophthalmology, Cleveland Clinic Lerner College of MedicineCase Western Reserve UniversityCleveland, Ohiotraboue@ccf.orgPatelMillan SMD, MScClinical Professor, Department of Medical GeneticsUniversity of British ColumbiaVancouver, British Columbia, Canadampatel@cw.bc.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nIsolated Gonadotropin-Releasing Hormone (GnRH) DeficiencySynonyms: Idiopathic Hypogonadotropic Hypogonadism, Isolated Hypogonadotropic HypogonadismBalasubramanianRavikumarMD, PhDInstructor, Harvard Medical SchoolReproductive Endocrine UnitMassachusetts General HospitalBoston, Massachusettsrbalasubramanian@partners.orgCrowleyWilliam FJrMDProfessor of Medicine, Harvard Medical SchoolChief, Reproductive Endocrine Unit of the Department of MedicineMassachusetts General HospitalBoston, Massachusettswcrowley@partners.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nIsolated Methylmalonic AcidemiaSynonym: Isolated Methylmalonic AciduriaManoliIriniMD, PhDmanolii@mail.nih.govSloanJennifer LPhDjsloan@mail.nih.govVendittiCharles PMD, PhDvenditti@mail.nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nIsolated Sulfite Oxidase DeficiencySynonym: SulfocysteinuriaSankaranBindu ParayilMD, DMdrpsbindu@yahoo.co.inNagappaMadhuMD, DMmadhu_nagappa@yahoo.co.inBharathRose DawnDMdrrosedawn@yahoo.comTalyArun BMD, DMabtaly@yahoo.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nJervell and Lange-Nielsen SyndromeSynonym: JLNSTranebjærgLisbethMD, PhDlisbeth.tranebjaerg@regionh.dktranebjaerg@sund.ku.dkSamsonRicardo AMDrsamson@childrensheartcenter.comGreenGlenn EdwardMDgegreen@med.umich.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nJoubert SyndromeSynonyms: JBTS, Joubert Syndrome and Related Disorders (JSRD)GlassIan AMB ChB, MDDivision of Genetic MedicineSeattle Children's HospitalUniversity of WashingtonSeattle, Washingtonianglass@uw.eduDempseyJennifer CMPHDivision of Genetic Medicine University of Washington Seattle, Washingtondempseyj@uw.eduParisiMelissaMD, PhDEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institutes of HealthBethesda, Marylandparisima@mail.nih.govDohertyDanMD, PhDDivisions of Developmental Medicine and Genetic MedicineSeattle Children's HospitalUniversity of WashingtonSeattle, Washingtonddoher@uw.edu\n\nSummary\n\n Clinical Characteristics of Joubert Syndrome\n\n Genetic Causes of Joubert Syndrome\n\n Evaluation Strategies to Identify the Genetic Cause of Joubert Syndrome in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nJunctional Epidermolysis BullosaPfendnerEllen GPhDDirector, EBDx Program\nGeneDx, Inc\nGaithersburg, Marylandellen@genedx.comLuckyAnne WMDDirector, Cincinnati Children's Epidermolysis Bullosa Center\nCincinnati Children's Hospital\nCincinnati, Ohioanne.lucky@cchmc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nJuvenile Polyposis SyndromeLarsen HaidleJoyMS, CGCNorth Memorial Health Cancer CenterRobbinsdale, Minnesotajoy.larsen.haidle@northmemorial.comMacFarlandSuzanne PMDDepartment of PediatricsDivision of OncologyChildren's Hospital of Philadelphia;University of PennsylvaniaPhiladelphia, Pennsylvaniamacfarlands@chop.eduHoweJames RMDDepartment of SurgeryUniversity of Iowa Hospitals and ClinicsIowa City, Iowajames-howe@uiowa.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nKabuki SyndromeSynonyms: Kabuki Make-Up Syndrome, Niikawa-Kuroki SyndromeAdamMargaret PMD, MS, FAAP, FACMGDepartment of PediatricsUniversity of WashingtonSeattle, Washingtonmargaret.adam@seattlechildrens.orgHannibalMarkMD, PhDDivision of GeneticsDepartment of Pediatrics and Communicable DiseasesUniversity of Michigan Medical SchoolAnn Arbor, Michiganhannibal@umich.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders<!-- {\\*\\bkmkstart_Differential_Diagnosis} -->\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nKagami-Ogata SyndromeSynonym: KOS14OgataTsutomuMD, PhDDepartment of PediatricsHamamatsu University School of MedicineHamamatsu, Japantomogata@hama-med.ac.jpKagamiMasayoMD, PhDDepartment of Molecular EndocrinologyNational Research Institute for Child Health and DevelopmentTokyo, Japankagami-ms@ncchd.go.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KAT6B</italic> DisordersLemireGabrielleMD, FRCPCg.lemire-therien@umontreal.caCampeauPhilippe MMD, FRCPCp.campeau@umontreal.caLeeBrendan HMD, PhDblee@bcm.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nKaufman Oculocerebrofacial SyndromeSynonym: Blepharophimosis-Ptosis-Intellectual Disability (BPID) SyndromeBrabbing-GoldsteinDanaMDdanabr2@clalit.org.ilBasel-SalmonLinaMD, PhDbasel@tauex.tau.ac.il\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KCNC1-</italic>Related DisordersGinnNatalieMGC, CGCginnn@chop.eduGoldbergEthan MMD, PhDgoldberge@chop.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KCNK9</italic> Imprinting SyndromeSynonym: Birk-Barel SyndromeZadehNedaMDDivision of Medical GeneticsCHOC Children’s HospitalGenetics CenterOrange, Californianzadeh@choc.orgDeardorffMatthewMD, PhDPathology and Laboratory MedicineKeck School of MedicineUniversity of Southern CaliforniaLos Angeles, Californiamdeardorff@chla.usc.eduCousinMargotPhDMayo ClinicRochester, Minnesotacousin.margot@mayo.eduGrahamJohn MJrMD, ScDDepartment of PediatricsHarbor-UCLA Medical CenterCedars-Sinai Medical CenterTorrance, CaliforniaEmeritus Professor of Pediatrics, David Geffen School of Medicine at UCLALos Angeles, Californiajohn.graham@cshs.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KCNQ2</italic>-Related DisordersMiceliFrancescoPhDfrmiceli@unina.itSoldovieriMaria VirginiaPhDmariavirginia.soldovieri@unimol.itWeckhuysenSarahMD, PhDsarah.weckhuysen@uantwerpen.beCooperEdwardMD, PhDecc1@bcm.eduTaglialatelaMaurizioMD, PhDmaurizio.taglialatela@unina.it\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KCNQ3</italic>-Related DisordersMiceliFrancescoPhDDivision of PharmacologyDepartment of NeuroscienceUniversity of Naples Federico IINaples, Italyfrmiceli@unina.itSoldovieriMaria VirginiaPhDDepartment of Health ScienceUniversity of MoliseCampobasso, Italymariavirginia.soldovieri@unimol.itWeckhuysenSarahMD, PhDApplied & Translational Neurogenomics GroupVIB Center for Molecular NeurologyUniversity of Antwerp;Neurology DepartmentUniversity HospitalAntwerp, Belgiumsarah.weckhuysen@uantwerpen.vib.beCooperEdward CMD, PhDDepartments of Neurology, Neuroscience, and Molecular and Human GeneticsBaylor College of MedicineHouston, Texasecc1@bcm.eduTaglialatelaMaurizioMD, PhDDivision of PharmacologyDepartment of NeuroscienceUniversity of Naples Federico IINaples, Italymtaglial@unina.it\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KCNT1</italic>-Related EpilepsyGertlerTracyMD, PhDDepartment of PediatricsAnn and Robert H Lurie Children's Hospital of ChicagoChicago, IllinoisBeardenDavidMD, MSCEDepartment of NeurologyDivision of Child NeurologyUniversity of Rochester School of MedicineRochester, New YorkBhattacharjeeArinPhDDepartment of PharmacologyUniversity of BuffaloBuffalo, New YorkCarvillGemmaPhDDepartment of NeurologyFeinberg School of MedicineNorthwestern UniversityChicago, Illinois\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KCTD7</italic>-Related Progressive Myoclonic EpilepsySynonym: Epilepsy, Progressive Myoclonic 3, With or Without Intracellular Inclusions (EPM3)YoganathanSangeethaMD, DMPediatric Neurology UnitDepartment of Neurological SciencesChristian Medical CollegeVellore, Tamil Nadu, Indiadoc_ys@yahoo.co.inJainPuneetMD, DMStaff Physician, Division of NeurologyHospital for Sick Children;Department of Pediatrics, University of TorontoToronto, Ontario, Canadapuneet.jain@sickkids.caCostainGregoryMD, PhD, FRCPCDivision of Clinical & Metabolic GeneticsHospital for Sick Children;Department of PediatricsUniversity of TorontoToronto, Ontario, Canadagregory.costain@sickkids.caWhitneyRobynMD, FRCPC, CSCN (EEG)Division of NeurologyDepartment of PediatricsMcMaster UniversityHamilton, Ontario, Canadawhitner@mcmaster.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KIF1A</italic>-Related Neurodevelopmental DisorderSynonyms: Complex KAND, Neurodegeneration and Spasticity With or Without Cerebellar Atrophy or Cortical Visual Impairment (NESCAV) SyndromeChungWendyMD, PhD, FACMGChief, Department of PediatricsBoston Children's Hospital;Mary Ellen Avery Professor of PediatricsHarvard Medical SchoolBoston, Massachusettswendy.chung@childrens.harvard.eduBoyleLiaMD, PhDResident, Department of Pediatrics and Medical GeneticsUniversity of MichiganAnn Arbor, Michiganliabo@med.umich.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nKindler SyndromeSynonym: Congenital Bullous PoikilodermaYoussefianLeilaPhDleila.youssefian@jefferson.eduVahidnezhadHassanPhDhassan.vahidnezhad@jefferson.eduUittoJouniMD, PhDjouni.uitto@jefferson.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nKleefstra SyndromeSynonyms: 9q34.3 Microdeletion Syndrome, 9qSTDS, 9q Subtelomeric Deletion SyndromeKleefstraTjitskeMD, PhDtjitske.kleefstra@radboudumc.nlde LeeuwNicolePhDnicole.deleeuw@radboudumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KMT2B</italic>-Related DisordersAbelaLuciaMD, PhDDepartment of Child NeurologyUniversity Children's Hospital ZurichZurich, Switzerlandlucia.abela@kispi.uzh.chKurianManju AnnMA, MBBChir, PhDDevelopmental Neurosciences ProgrammeUCL-Institute of Child HealthLondon, United Kingdommanju.kurian@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KMT2E</italic>-Related Neurodevelopmental DisorderSynonym: O'Donnell-Luria-Rodan Syndrome (ODLURO)PaisLynnMSc, MS, CGClynn.pais@childrens.harvard.eduRodanLanceMDlance.rodan@childrens.harvard.eduO'Donnell-LuriaAnneMD, PhDanne.odonnell@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nKoolen-de Vries SyndromeSynonym: KdVSKoolenDavid AMD, PhDdavid.koolen@radboudumc.nlMorganAngelaProf, PhDangela.morgan@mcri.edu.aude VriesBert BAMD, PhDbert.devries@radboudumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">KPTN</italic>-Related DisorderSynonym: Macrocephaly, Autistic Features, Seizures, Developmental Delay (MASD) SyndromeRawlinsLettie EBSc, MBChB, MRCP, PhDl.rawlins@exeter.ac.ukCrinoPeter BBA, MD, PhDpcrino@som.umaryland.eduIfflandPhilip HBA, MA, PhDpiffland@som.umaryland.eduCrosbyAndrew HBSc, PhDa.h.crosby@exeter.ac.ukBapleEmma LBSc, MBBS, MRCPCH, PhDe.baple@exeter.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nKrabbe DiseaseSynonyms: Galactocerebrosidase Deficiency, GALC Deficiency, Globoid Cell LeukodystrophyOrsiniJoseph JPhDjoseph.orsini@health.ny.govEscolarMaria LMD, MSmaria.escolar@chp.eduWassersteinMelissa PMDmwassers@montefiore.orgCagganaMicheleScDmichele.caggana@health.ny.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nL1 SyndromeSynonym: L1 DiseaseStumpelConnieMD, PhDDepartment of Clinical Genetics\nAcademic Hospital Maastricht and School for Oncology & Developmental Biology (GROW);\nMaastricht University and University Hospital Maastricht (MUMC+)\nMaastricht, the Netherlandsc.stumpel@mumc.nlVosYvonne JPhDDepartment of Genetics\nUniversity Medical Center Groningen\nGroningen, the Netherlandsy.j.vos@umcg.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLaing Distal MyopathySynonym: Laing Early-Onset Distal MyopathyLamontPhillipaMBBS, PhDProfessor, Department of Neurology\nRoyal Perth Hospital\nPerth, Western Australiaphillipa.lamont@health.wa.gov.auLaingNigel GPhDProfessor, NH & MRC Principal Research Fellow, Harry Perkins Institute for Medical Research\nUniversity of Western Australia\nNedlands, Western Australianigel.laing@perkins.uwa.edu.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">LAMA2</italic> Muscular DystrophySynonym: Laminin α2 Chain-DeficiencyOliveiraJorgeMSc, PhDjmoliveira@ibmc.up.ptParente FreixoJoãoMDjoao.freixo@ibmc.up.ptSantosManuelaMDmanuela.a.santos@gmail.comCoelhoTeresaMD, PhDtcoelho@netcabo.pt\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nLathosterolosisSynonyms: Sterol C-5 Desaturase Deficiency, Sterol-C5-Desaturase Deficiency, SC5D DeficiencyPrasunPankajMDdrpankajprasun@gmail.comGaneshJayaMDjaya.ganesh@mssm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLeber Hereditary Optic NeuropathySynonyms: Leber's Disease, Leber's Hereditary Optic Neuropathy, Leber's Optic Atrophy, Leber's Optic Neuropathy, LHONYu-Wai-ManPatrickBMedSci, MBBS, PhD, FRCPath, FRCOphthpy237@cam.ac.ukChinneryPatrick FBMedSci, MBBS, PhD, FRCPath, FRCP, FMedScipfc25@cam.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLegius SyndromeSynonym: Neurofibromatosis Type 1-Like SyndromeStevensonDavidMDStanford UniversityStanford, Californiadasteven@stanford.eduLegiusEricMD, PhDUniversity of LeuvenLeuven, Belgiumeric.legius@uzleuven.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLeukodystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLYVanderverAdelineMDChildren's Hospital of PhiladelphiaPhiladelphia, Pennsylvaniavandervera@email.chop.eduTondutiDavideMDDepartment of Child Neurology and Psychiatry, IRCCS CMondino Institute of Neurology FoundationPavia, Italydavidetondu@hotmail.comSchiffmannRaphaelMDInstitute of Metabolic DiseaseBaylor Research InstituteDallas, Texasp15099@baylorhealth.eduSchmidtJohannaMPH, MGC, CGCDepartment of Neurology & Center for Genetic Medicine ResearchChildren's National Medical CenterWashington, DCjloewens@childrensnational.orgvan der KnaapMarjo SMD, PhDDepartment of Child NeurologyVrije Universiteit Medical CenterAmsterdam, Netherlandsms.vanderknaap@vumc.nl\n\nSummary\n\nDefinition of Leukodystrophy\n\nClinical Manifestations of Leukodystrophies\n\nPrevalence of Leukodystrophies\n\nDifferential Diagnosis of Leukodystrophies\n\nEvaluation Strategy for an Individual with a Leukodystrophy\n\nGenetic Counseling\n\nResources\n\nManagement\n\nReferences\n\nChapter Notes\n\nLeukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate ElevationSynonyms: LBSL, Mitochondrial Aspartyl-tRNA Synthetase DeficiencyEngelenMarcMD, PhDm.engelen@amsterdamumc.nlAbbinkTruus EMPhDg.abbink@amsterdamumc.nlSalomonsGajja SPhDg.salomons@amsterdamumc.nlvan der KnaapMarjo SMD, PhDms.vanderknaap@amsterdamumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLi-Fraumeni SyndromeSchneiderKatherineMPHkatherine_schneider@dfci.harvard.eduZelleyKristinMS, LGCzelleyk@chop.eduNicholsKim EMDkim.nichols@stjude.orgSchwartz LevineAlisonMS, CGCalison_schwartz@dfci.harvard.eduGarberJudyMD, MPHjudy_garber@dfci.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLimb-Girdle Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLYSynonym: LGMDPegoraroElenaMD, PhDDepartment of NeurosciencesUniversity of PadovaPadova, Italyelena.pegoraro@unipd.itHoffmanEric PPhDResearch Center for Genetic MedicineChildren's National Medical CenterWashington, DCehoffman@childrens-research.org\n\nSummary\n\nDefinition\n\nCauses\n\nEvaluation Strategy\n\nGenetic Counseling\n\nResources\n\nManagement\n\nReferences\n\nChapter Notes\n\nLipoid ProteinosisSynonyms: Hyalinosis Cutis et Mucosae, Urbach-Wiethe DiseaseVahidnezhadHassanPhDhassan_vahidnezhad@yahoo.comYoussefianLeilaPhDleila.youssefian@jefferson.eduUittoJouniMD, PhDjouni.uitto@jefferson.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">LMNA</italic>-Related Dilated CardiomyopathyHershbergerRay EMDProfessor of Medicine, Divisions of Human Genetics and Cardiovascular Medicine\nThe Ohio State University\nColumbus, Ohioray.hershberger@osumc.eduJordanElizabethMMSc, CGCAssistant Professor, Division of Human Genetics\nThe Ohio State University\nColumbus, Ohioelizabeth.jordan@osumc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">LMNB1</italic>-Related Autosomal Dominant LeukodystrophySynonyms: Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms, Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy, Autosomal Dominant Leukodystrophy with Autonomic Symptoms, LMNB1-Related ADLDRaininkoRailiMD, PhDraili.raininko@radiol.uu.seGoskyMichaelBS, MSmdg75@pitt.eduPadiathQuasar SMBBS, PhDqpadiath@pitt.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLoeys-Dietz SyndromeSynonym: Loeys-Dietz Aortic Aneurysm SyndromeLoeysBart LMD, PhDCenter of Medical GeneticsAntwerp University HospitalAntwerp, Belgiumbart.loeys@uantwerp.beDietzHarry CMDVictor A McKusick Professor of Medicine and GeneticsDepartment of Genetic MedicineDepartments of Pediatrics, Medicine, and Molecular Biology and GeneticsJohns Hopkins University School of MedicineBaltimore, Marylandhdietz@jhmi.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLong-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein DeficiencyPrasunPankajMDpankaj.prasun@mssm.eduLoPiccoloMary KateMDmary.lopiccolo@mssm.eduGinevicIlonaRDIlona.ginevic@mssm.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLong QT Syndrome OverviewGroffenAlexander JPhDa.groffen@amsterdamumc.nlBikkerHenniePhDh.bikker@amsterdamumc.nlChristiaansImkePhD, MDi.christiaans@umcg.nl\n\nSummary\n\n Clinical Characteristics of Long QT Syndrome\n\n Genetic Causes of Long QT Syndrome\n\n Differential Diagnosis of Long QT Syndrome\n\n Evaluation Strategies to Identify the Genetic Cause of Long QT Syndrome in a Proband\n\n Management\n\n Genetic Risk Assessment and Evaluations of At-Risk Relatives for Early Detection and Treatment of Long QT Syndrome\n\nResources\n\nChapter Notes\n\nReferences\n\nLowe SyndromeSynonyms: Oculocerebrorenal Syndrome, Oculocerebrorenal Syndrome of LoweLewisRichard AlanMD, MSProfessor, Departments of Molecular and Human Genetics, Ophthalmology, Medicine, and Pediatrics\nBaylor College of Medicine\nHouston, Texasrlewis@bcm.eduNussbaumRobert LMDChief Medical Officer, Invitae Corporation\nSan Francisco, Californiarobert.nussbaum@invitae.comBrewerEileen DMDProfessor, Pediatric Renal Section\nBaylor College of Medicine\nMedical Director, Renal Transplantation\nTexas Children's Hospital\nHouston, Texasebrewer@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">LPIN2</italic>-Related Majeed SyndromeNarayananDhanya LakshmiMD, DMdhanya.lakshmi@manipal.eduGogineniKishore SaiMSckishoresai88@gmail.comBadigerVaishnavi AshokMScbadigervaishnavi2@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">LRRK2-</italic>Related Parkinson DiseaseSynonym: PARK-LRRK2WiseAdinaMDadina.wise@mountsinai.orgRaymondDeborahMSdeborah.raymond@mountsinai.orgSaunders-PullmanRachelMD, MPHrachel.saunders-pullman@mountsinai.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">LTBP4</italic>-Related Cutis LaxaSynonyms: Autosomal Recessive Cutis Laxa Type 1C (ARCL1C), Urban-Rifkin-Davis Syndrome (URDS)CallewaertBert LMD, PhDCenter for Medical GeneticsGhent University HospitalGhent, Belgiumbert.callewaert@ugent.beUrbanZsoltPhDDepartment of Human GeneticsUniversity of Pittsburgh Graduate School of Public HealthPittsburgh, Pennsylvaniaurbanz@pitt.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLymphedema-Distichiasis SyndromeMansourSaharFRCPConsultant Geneticist, SW Thames Regional Genetics DepartmentSt George's, University of LondonLondon, United Kingdomsmansour@sgul.ac.ukBriceGlen WRGN, BSc (Hons)SW Thames Regional Genetics DepartmentSt George's, University of LondonLondon, United Kingdomgbrice@sgul.ac.ukJefferyStevePhDDivision of Medical GeneticsSt George's, University of LondonLondon, United Kingdomsggt100@sgul.ac.ukMortimerPeterMD, FRCPDepartment of Cardiac and Vascular Sciences (Dermatology)St George's, University of LondonLondon, United Kingdommortimer@sgul.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nLynch SyndromeIdosGregoryMD, MSgidos@coh.orgValleLauraPhDlvalle@idibell.cat\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLysinuric Protein IntoleranceNunesVirginiaPhDProfessor of Genetics, Genetics UnitPhysiological SciencesFaculty of Medicine – Bellvitge CampusUniversity of BarcelonaSenior Investigator, Molecular Genetics LaboratoryInstituto de Investigación Biomédica de BellvitgeCoordinator of the Genes Disease and Therapy Program at IDIBELLChief, Centro de Investigación Biomédica en Red de Enfermedades Raras U730Barcelona, Spainvnunes@ub.eduvnunes@idibell.catNiinikoskiHarriMD, PhDProfessor of Nutrition in MedicineUniversity of TurkuPediatric EndocrinologistTurku University HospitalTurku, Finlandharri.niinikoski@tyks.fi\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nLysosomal Acid Lipase DeficiencySynonyms: Acid Lipase Deficiency, LAL Deficiency (LAL-D)BalwaniManishaMD, MSIcahn School of Medicine at Mount SinaiNew York, New Yorkmanisha.balwani@mssm.eduVijaySureshFRCPCHBirmingham Children's HospitalNHS Foundation TrustBirmingham, United Kingdomsuresh.vijay1@nhs.net\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">LZTR1</italic>- and <italic toggle=\"yes\">SMARCB1</italic>-Related SchwannomatosisDhamijaRadhikaMDDepartment of Clinical Genomics and NeurologyMayo ClinicRochester, Minnesotadhamija.radhika@mayo.eduPlotkinScottMD, PhDDepartment of NeurologyHarvard Medical School;Massachusetts General HospitalBoston, Massachusettssplotkin@mgh.harvard.eduGomesAliciaMS, LCGCDepartment of Clinical and Diagnostics SciencesUniversity of Alabama at BirminghamBirmingham, Alabamaagomes@uabmc.eduBabovic-VuksanovicDusicaMDDepartment of Clinical GenomicsMayo ClinicRochester, Minnesotadbabovic@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMandibulofacial Dysostosis with MicrocephalySynonym: Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA), EFTUD2-Related Mandibulofacial Dysostosis with Microcephaly (Guion-Almeida Type)LinesMatthewMDmatthew.lines@albertahealthservices.caHartleyTailaMScthartley@cheo.on.caMacDonaldStella KBScsmacdonald@cheo.on.caBoycottKym MPhD, MDkboycott@cheo.on.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMaple Syrup Urine DiseaseSynonyms: BCKD Deficiency, Branched-Chain Ketoacid Dehydrogenase Deficiency, Maple Syrup Disease, MSUDStraussKevin AMDkstrauss@clinicforspecialchildren.orgPuffenbergerErik GPhDepuffenberger@clinicforspecialchildren.orgCarsonVincent JMDvcarson@clinicforspecialchildren.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MAPT-</italic>Related Frontotemporal DementiaRohrerJonathanFRCP, PhDProfessor of Neurology, UCL Queen Square Institute of NeurologyLondon, United Kingdomj.rohrer@ucl.ac.ukRyanBrigidPhDResearch Fellow, Centre for Brain Research and Department of Anatomy and Medical ImagingUniversity of AucklandAuckland, New Zealandb.ryan@auckland.ac.nzAhmedRebekahFRACP, PhDClinical Associate Professor and NHMRC Early Career Fellow, Sydney Medical SchoolUniversity of SydneySydney, Australiarebekah.ahmed@sydney.edu.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMarinesco-Sjögren SyndromeAnttonenAnna-KaisaMD, PhDMedical and Clinical GeneticsUniversity of Helsinki and Helsinki University HospitalHelsinki, Finlandanna-kaisa.anttonen@hus.fi\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMaternal 15q Duplication SyndromeLuskLainaMMSc, CGCChildren’s Hospital of PhiladelphiaPhiladelphia, Pennsylvanialuskl@email.chop.eduVogel-FarleyVanessaBADup15q AllianceHighland Park, Illinoisvanessa.vogelfarley@dup15q.orgDiStefanoCharlottePhDUniversity of California Los AngelesLos Angeles, Californiacdistefano@mednet.ucla.eduJesteShafaliMDChief of NeurologyChildren's Hospital Los AngelesLos Angeles, Californiasjeste@chla.usc.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMaternal Effect Gene-Related Multilocus Imprinting DisturbancesTümerZeynepMD, PhD, DMSczeynep.tumer@regionh.dkEggermannThomasPhDteggermann@ukaachen.deMaasSaskiaMDs.m.maas@amsterdamumc.nlBliekJetPhDj.bliek@amc.uva.nlMackayDeborahPhDdjgm@soton.ac.uk\n\nSummary\n\n Genomic Imprinting\n\n Review of Imprinting Disorders in Which Multilocus Imprinting Disturbances Have Been Observed\n\n Genes of Interest in Maternal Effect Gene-Related Multilocus Imprinting Disturbances\n\n\n<!-- {\\*\\bkmkstart_Hlk156998694} -->Evaluation Strategies to Identify the Genetic Cause of Maternal Effect Gene-Related Multilocus Imprinting Disturbances in a Family\n\n Genetic Counseling\n\nChapter Notes\n\nReferences\n\nMaturity-Onset Diabetes of the Young OverviewSynonym: MODY OverviewNaylorRochelleMDrnaylor@bsd.uchicago.eduKnight JohnsonAmyMS, CGCaknightjohnson@bsd.uchicago.edudel GaudioDanielaPhDddelgaudio@bsd.uchicago.edu\n\nSummary\n\n Clinical Characteristics of MODY\n\n Genetic Causes of MODY\n\n Evaluation Strategy to Identify the Genetic Cause of MODY in a Proband\n\n Management of MODY Based on Genetic Cause\n\n Risk Assessment and Surveillance of At-Risk Relatives for Early Detection and Treatment of MODY\n\nResources\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MBD5</italic> HaploinsufficiencySynonym: 2q23.1 Microdeletion SyndromeMullegamaSureni VPhDsvm013@shsu.eduMendoza-LondonoRobertoMDroberto.mendoza@sickkids.caElseaSarah HPhDelsea@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MBTPS1</italic>-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal EnzymesSynonym: Spondyloepiphyseal Dysplasia, Kondo-Fu Type (SEDKF)WangHuaMD, PhDSchool of MedicineLoma Linda UniversityLoma Linda, Californiahuawang@llu.eduWierengaAndreaPhDSIVOTEC BioinformaticsBoca Raton, Floridaawierenga@gena.techPrabhuSandeepMDDepartment of RadiologyUniversity of OklahomaOklahoma City, Oklahomasandeep-prabhu@ouhsc.eduWierengaKlaasMDDepartment of Clinical GenomicsMayo Clinic FloridaJacksonville, Floridawierenga.klaas@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMcKusick-Kaufman SyndromeSlavotinekAnne MMB, BS, PhDDepartment of PediatricsUniversity of California, San FranciscoSan Francisco, Californiaanne.slavotinek@ucsf.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMcLeod Neuroacanthocytosis SyndromeJungHans HMDDepartment of Neurology\nUniversity Hospital Zurich\nZurich, Switzerlandhans.jung@usz.chDanekAdrianMDDepartment of Neurology\nUniversity Hospital LMU Munich\nMunich, Germanydanek@lmu.deWalkerRuth HMD,ChB, PhDDepartment of Neurology\nVeterans Affairs Medical Center\nBronx, New Yorkruth.walker@mssm.eduFreyBeat MMDBlood Transfusion Service\nSwiss Red Cross\nSchlieren/Zürich, Switzerlandbm.frey@zhbsd.chPeikertKevinMDTranslational Neurodegeneration Section \"Albrecht-Kossel\"\nDepartment of Neurology\nUniversity Medical Center Rostock\nRostock, Germanykevin.peikert@med.uni-rostock.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MCM8</italic>/<italic toggle=\"yes\">MCM9</italic>-Related SyndromesSynonyms: MCM8 Deficiency Syndrome, MCM9 Deficiency SyndromeHeldermanNoah CMD, PhDn.c.helderman@lumc.nlBen YahiaSalwaMDs.ben_yahia@lumc.nlRajkovicAleksandarMD, PhDaleks.rajkovic@ucsf.eduGoldbergYaelMDyaelgo43@gmail.comNielsenMaartjeMD, PhDm.nielsen@lumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MECP2</italic> DisordersKaurSimranpreetMSc, M PhilBrain and Mitochondrial Research GroupMurdoch Children’s Research Institute;Department of PaediatricsUniversity of MelbourneParkville, Victoria, Australiasimran.kaur@mcri.edu.auChristodoulouJohnMBBS, PhD, FRACP, FFSc, FRCPA, FAHMSProfessor, Pediatrics and Biochemical, Molecular, and Human GeneticsTheme Director, Genetics ResearchMurdoch Children’s Research Institute;Chair of Genomic Medicine, Department of PediatricsUniversity of MelbourneMelbourne, Victoria, Australiajohn.christodoulou@mcri.edu.au\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MECP2</italic> Duplication SyndromeVan EschHildeMD, PhDCenter for Human GeneticsUniversity Hospitals LeuvenLeuven, Belgiumhilde.vanesch@uzleuven.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MECR</italic>-Related Neurologic DisorderSynonym: Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN)HeimerGaliMD, PhDgalih.md@gmail.comGregoryAllisonMSgregorya@ohsu.eduHogarthPenelopeMDhogarthp@ohsu.eduHayflickSusanMDhayflick@ohsu.eduBen ZeevBruriaMD, Profbruria.benzeev@sheba.health.gov.il\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MED12</italic>-Related DisordersLyonsMichael JMD, FAAP, FACMGAssociate Clinical Geneticist, Greenwood Genetic CenterCharleston, South Carolinamlyons@ggc.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MED13L</italic> SyndromeSynonyms: MED13L Haploinsufficiency Syndrome, MED13L-Related Intellectual DisabilityCampbellAlicia NicolePhDcampbe26@rowan.eduBainJenniferMD, PhDJb3634@cumc.columbia.eduDoyleSteven JamesPhD, DOdoyles5@rowan.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMedium-Chain Acyl-Coenzyme A Dehydrogenase DeficiencySynonym: MCAD DeficiencyChangIrene JMD, MScAssistant ProfessorUniversity of California at San FranciscoSan Francisco, Californiairene.chang@ucsf.eduLamChristinaMDAssociate ProfessorUniversity of Washington;Seattle Children's HospitalSeattle, Washingtonchristina.lam@seattlechildrens.orgVockleyJerryMD, PhDProfessorUniversity of PittsburghPittsburgh, Pennsylvaniavockleyg@upmc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MEF2C</italic>-Related DisorderSynonyms: MEF2C Deficiency; MEF2C Haploinsufficiency Syndrome (MCHS); MEF2C-Related Neurodevelopmental Disorder; MEF2C-Related Syndrome; Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language (NEDHSIL)Cooley ColemanJessicaPhDjcoleman@ggc.orgSkinnerSteven AMDsas@ggc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMegacystis-Microcolon-Intestinal Hypoperistalsis Syndrome OverviewSynonyms: Berdon Syndrome, MMHSAmbartsumyanLusineMDSeattle Children's HospitalSeattle, Washingtonlusine.ambartsumyan@seattlechildrens.org\n\nSummary\n\n Clinical Characteristics of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome\n\n Genetic Causes of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome\n\n Evaluation Strategy to Identify the Genetic Cause of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome\n\n Management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome\n\n Genetic Counseling of Family Members of an Individual with Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome\n\nResources\n\nChapter Notes\n\nReferences\n\nMegalencephalic Leukoencephalopathy with Subcortical CystsSynonym: Van der Knaap DiseaseMinRogierPhDr.min@amsterdamumc.nlAbbinkTruus EMPhDg.abbink@amsterdamumc.nlvan der KnaapMarjo SMD, PhDms.vanderknaap@amsterdamumc.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMELASEl-HattabAyman WMD, FAAP, FACMGelhattabaw@yahoo.comAlmannaiMohammedMD, FAAP, FACMGmalmannai@kfmc.med.saScagliaFernandoMD, FAAP, FACMGfscaglia@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMERRFSynonym: Myoclonic Epilepsy Associated with Ragged Red FibersVelez-BartolomeiFrancesMDfvelez@stanford.eduLeeChungMDchunglee@stanford.eduEnnsGregoryMB, ChBgenns@stanford.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MFN2</italic> Hereditary Motor and Sensory NeuropathySynonyms: MFN2 Charcot-Marie-Tooth Neuropathy, MFN2-HMSNZüchnerStephanMD, PhDDepartment of Human GeneticsUniversity of Miami Miller School of MedicineMiami, Floridaszuchner@med.miami.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMicrocephalic Osteodysplastic Primordial Dwarfism Type IISynonyms: Majewski Osteodysplastic Primordial Dwarfism Type II, MOPDII, PCNT-Related Microcephalic Osteodysplastic Primordial DwarfismDukerAngelaMSNemours Children's HealthWilmington, Delawareaduker@nemours.orgJacksonAndrewMBBS, PhDMRC Institute of Genetics and CancerUniversity of EdinburghEdinburgh, United Kingdomandrew.jackson@ed.ac.ukBoberMichael BMD, PhDNemours Children’s HealthWilmington, Delawarembober@nemours.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMicrocephaly-Capillary Malformation SyndromeSynonym: MIC-CAP SyndromeCarterMelissa TMSc, MD, FRCPCmcarter@cheo.on.caMirzaaGhaydaMD, FAAP, FACMGghayda.mirzaa@seattlechildrens.orgMcDonellLaura MMD, PhDlaura.mcdonell@nshealth.caBoycottKym MPhD, MD, FRCPC, FCCMGkboycott@cheo.on.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMicrophthalmia/Anophthalmia/Coloboma Spectrum – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLYBardakjianTanyaMS, LCGCGeneDxGaithersburg, MarylandWeissAveryMDDepartment of OphthalmologyChildren's Hospital and Regional Medical CenterSeattle, WashingtonSchneiderAdeleMD, FACMGDepartment of GeneticsEinstein Medical CenterPhiladelphia, Pennsylvania\n\nSummary\n\nDefinition\n\nCauses\n\nEvaluation Strategy\n\nGenetic Counseling\n\nResources\n\nManagement\n\nReferences\n\nChapter Notes\n\nMicrophthalmia with Linear Skin Defects SyndromeSynonyms: Microphthalmia, Dermal Aplasia, and Sclerocornea (MIDAS) Syndrome; MLS SyndromeMorleoManuelaPhDmorleo@tigem.itFrancoBrunellaMDfranco@tigem.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">MID1</italic>-Related Opitz G/BBB SyndromeSynonyms: X-Linked Opitz Syndrome (XLOS), X-Linked Opitz G/BBB SyndromeMeroniGermanaPhDDepartment of Life SciencesUniversity of TriesteTrieste, Italygmeroni@units.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMilroy DiseaseSynonym: Hereditary Lymphedema Type IVan ZantenMalouPhDSenior Clinical Research Practitioner, Molecular and Clinical Sciences Research InstituteSt George's, University of LondonLondon, United Kingdommvanzant@sgul.ac.ukMansourSaharFRCPProfessor of Clinical Genetics, SW Thames Regional Genetics DepartmentSt George's, University of LondonLondon, United Kingdomsmansour@sgul.ac.ukOstergaardPiaPhDProfessor of Human Genetics, Molecular and Clinical Sciences Research InstituteSt George's, University of LondonLondon, United Kingdomposterga@sgul.ac.ukMortimerPeterMD, FRCPProfessor of Dermatological Medicine, Molecular and Clinical Sciences Research InstituteSt George's, University of LondonLondon, United Kingdommortimer@sgul.ac.ukGordonKristianaMD, FRCPConsultant and Reader in Dermatology & Lymphovascular MedicineSt George's University HospitalsNHS Foundation TrustLondon, United Kingdomkristiana.gordon@stgeorges.nhs.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMIRAGE SyndromeSynonym: Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and EnteropathyTanase-NakaoKanakoMD, PhDnakao-k@ncchd.go.jpOlsonTimothy SMD, PhDolsont@chop.eduNarumiSatoshiMD, PhDnarumi-s@ncchd.go.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMitochondrial DNA-Associated Leigh Syndrome SpectrumSynonym: mtDNA-Associated Leigh Syndrome SpectrumBallMeganMDmegan.ball@mcri.edu.auThorburnDavid RPhD, FHGSA, FFSc(RCPA)david.thorburn@mcri.edu.auRahmanShamimaPhD, FRCP, FRCPCHshamima.rahman@ucl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMitochondrial DNA Maintenance Defects OverviewEl-HattabAyman WMD, FAAP, FACMGelhattabaw@yahoo.comCraigenWilliam JMD, PhD, FACMGwcraigen@bcm.eduWongLee-Jun CPhD, FACMGljwong@bcm.eduScagliaFernandoMD, FAAP, FACMGfscaglia@bcm.edu\n\nSummary\n\n Mitochondrial DNA Maintenance Defects\n\n Causes of mtDNA Maintenance Defects\n\n Clinical Characteristics of mtDNA Maintenance Defects\n\n Evaluation Strategies to Diagnose mtDNA Maintenance Defects and to Establish a Genetic Cause in a Proband\n\n Management of Individuals with mtDNA Maintenance Defects\n\n Genetic Counseling\n\nChapter Notes\n\nReferences\n\nMitochondrial Membrane Protein-Associated NeurodegenerationSynonym: Neurodegeneration with Brain Iron Accumulation 4 (NBIA4)GregoryAllisonMS, CGCGenetic Counselor and Research Instructor, Oregon Health & Science UniversityPortland, Oregongregorya@ohsu.eduKlopstockThomasMDProfessor of Neurology, Friedrich Baur InstituteDepartment of NeurologyUniversity Hospital, LMU MunichMunich, Germanythomas.klopstock@med.lmu.deKmiecTomaszMDAssociate Professor, NeurologyChildren's Memorial Health InstituteWarsaw, Polanddr.tomaszkmiec@gmail.comHogarthPenelopeMDAssociate Professor, Molecular and Medical GeneticsOregon Health & Science UniversityPortland, Oregonhogarthp@ohsu.eduHayflickSusan JMDProfessor and Chair, Molecular and Medical GeneticsProfessor, Pediatrics and NeurologyOregon Health & Science UniversityPortland, Oregonhayflick@ohsu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMitochondrial Neurogastrointestinal Encephalopathy DiseaseSynonyms: Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, MNGIE Syndrome, Thymidine Phosphorylase DeficiencyHiranoMichioMDH Houston Merritt Center\nDepartment of Neurology\nColumbia University Medical Center\nNew York, New Yorkmh29@columbia.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMitochondrial Short-Chain Enoyl-CoA Hydratase DeficiencySynonyms: ECHS1D, ECHS1 Deficiency, Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency, SCEH DeficiencyGanetzkyRebeccaMDAssociate Professor of PediatricsDivision of Human GeneticsChildren's Hospital of PhiladelphiaPhiladelphia, Pennsylvaniaganetzkyr@email.chop.eduKongChristineBAPerelman School of MedicineUniversity of PennsylvaniaPhiladelphia, Pennsylvaniachristine.kong@pennmedicine.upenn.eduElsharkawiIbrahimMDAssistant Professor of Genetics and Genomic SciencesIcahn School of Medicine at Mount SinaiNew York, New Yorkibrahim.elsharkawi@mssm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MN1</italic> C-Terminal Truncation SyndromeMakChristopher CYMBChB, PhDccymak@connect.hku.hkFungJasmine LFBBiomedScjasflf@connect.hku.hkLeeMianneMScmianne@hku.hkLinAngela EMDalin@partners.orgAmielJeanneMD, PhDjeanne.amiel@inserm.frDohertyDanMD, PhDddoher@uw.eduGordonChristopher TPhDchris.gordon@inserm.frChungBrian HYMDbhychung@hku.hk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMolybdenum Cofactor DeficiencyMiskoAlbertMD, PhDamisko@mgh.harvard.eduMahtaniKarishmaBSck.mahtani@smd18.qmul.ac.ukAbbottJessicajessicaabbott113@gmail.comSchwarzGuentergschwarz@uni-koeln.deAtwalPaldeepMDdra@atwalclinic.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMonogenic Isolated Dystonia OverviewLohmannKatjaPhDkatja.lohmann@uni-luebeck.deLangeLaraMDla.lange@uni-luebeck.deKleinChristineMDchristine.klein@neuro.uni-luebeck.deZechMichaelMDmichael.zech@mri.tum.de\n\nSummary\n\n Clinical Characteristics of Monogenic Isolated Dystonia\n\n Causes of Monogenic Isolated Dystonia\n\n Differential Diagnosis of Monogenic Isolated Dystonia\n\n Evaluation Strategies to Identify the Cause of Monogenic Isolated Dystonia in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nMonogenic Parkinson Disease OverviewMorrisHuwPhD, FRCPUCL Queen Square Institute of NeurologyLondon, United Kingdomh.morris@ucl.ac.ukLimShen-YangMD, FRACPUniversity of Malaya Medical CentreKuala Lumpur, Malaysiasylim@ummc.edu.my\n\nSummary\n\n Clinical Characteristics of Parkinson Disease\n\n Monogenic Causes of Parkinson Disease\n\n Differential Diagnosis of Monogenic Parkinson Disease\n\n Evaluation Strategies to Identify the Genetic Cause of Parkinson Disease in a Proband\n\n Participation in Targeted Therapeutic Clinical Trials\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nMonosomy 7 Predisposition Syndromes OverviewOlsonTimothy SMD, PhDolsont@chop.eduDickersonKathryn EMDkathryn.dickerson@utsouthwestern.eduNakanoTaizo AMDtaizo.nakano@childrenscolorado.orgWlodarskiMarcinMD, PhDmarcin.wlodarski@stjude.org\n\nSummary\n\n Clinical Characteristics of Monosomy 7 Predisposition Syndromes\n\n Causes of Monosomy 7 Predisposition Syndromes\n\n Evaluation Strategies to Identify the Genetic Cause of Monosomy 7 Predisposition in a Proband\n\n Differential Diagnosis of Monosomy 7 Predisposition Syndromes\n\n Management: To Inform (When Possible) Medical Management of Monosomy 7 Based on Genetic Cause\n\n Risk Assessment and Surveillance of At-Risk Relatives for Early Detection and Treatment of Monosomy 7 Predisposition Syndromes\n\nChapter Notes\n\nReferences\n\nMosaic <italic toggle=\"yes\">EPAS1</italic> Gain-of-Function SpectrumAlkaissiHussamMD, MShussam.alkaissi@nih.govPacakKarelMD, DSc, FACE, Dhckarel@mail.nih.govZhuangZhengpingMD, PhDzhengping.zhuang@nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMPPH SyndromeSynonym: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus SyndromeMirzaaGhaydaMD, FAAP, FACMGSeattle Children's Research InstituteSeattle, Washingtonghayda.mirzaa@seattlechildrens.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MPV17-</italic>Related Mitochondrial DNA Maintenance DefectSynonyms: Mitochondrial DNA Depletion Syndrome 6 (MTDPS6), Hepatocerebral Type; MPV17 Deficiency; MPV17 Hepatocerebral Mitochondrial DNA Depletion SyndromeEl-HattabAyman WMD, FAAP, FACMGelhattabaw@yahoo.comWangJuliaBSjulia.wang@bcm.eduDaiHongzhengPhDhongzheng.dai@bcm.eduAlmannaiMohammedMD, FAAP, FACMGmalmannai@kfmc.med.saScagliaFernandoMD, FAAP, FACMGfscaglia@bcm.eduCraigenWilliam JMD, PhD, FACMGwcraigen@bcm.eduWongLee-Jun CPhD, FACMGljwong@bcm.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMucolipidosis III GammaSynonyms: MLIII Gamma, ML IIIγ, Mucolipidosis Type III GammaRaas-RothschildAnnickMDannick.rein@sheba.health.org.ilSpiegelRonenMDspiegel_ro@clalit.org.il\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMucolipidosis IVMiskoAlbertMD, PhDDepartment of NeurologyMassachusetts General HospitalHarvard Medical SchoolBoston, Massachusettsamisko@mgh.harvard.eduGrishchukYuliaPhDDepartment of NeurologyMassachusetts General HospitalCenter for Genomic MedicineHarvard Medical SchoolBoston, Massachusettsygrishchuk@mgh.harvard.eduGoldinEhudPhDSection on Molecular NeurogeneticsMedical Genetics BranchNational Human Genome Research InstituteNational Institutes of HealthBethesda, Marylandgoldine@mail.nih.govSchiffmannRaphaelMD, MHScBaylor Scott & White Research InstituteDallas, Texasraphael.schiffmann@bswhealth.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMucopolysaccharidosis Type IISynonyms: Hunter Syndrome, Iduronate-2-Sulfatase Deficiency, MPS IIScarpaMaurizioMD, PhDRegional Coordinating Center for Rare DiseasesUniversity Hospital of UdineUdine Italymaurizio.scarpa@asufc.sanita.fvg.itLampeChristinaMDCenter for Rare DiseasesDepartment of Pediatric NeurologyMuscular Diseases and Social PediatricsUniversity of GiessenGiessen, Germanychristina.lampe@paediat.med.uni-giessen.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMucopolysaccharidosis Type IIISynonyms: MPS III, Sanfilippo SyndromeWagnerVictoria FMS, CGCvictoria.wagner@uth.tmc.eduNorthrupHopeMDhope.northrup@uth.tmc.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nMucopolysaccharidosis Type ISynonyms: Alpha-L-Iduronidase Deficiency, IDUA Deficiency, MPS IClarkeLorne AMDProfessor, Medical GeneticsUniversity of British ColumbiaVancouver, BC, Canadalorne.clarke@ubc.ca\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMucopolysaccharidosis Type IVASynonyms: Morquio A Disease, Morquio Syndrome Type A, MPS IVARegierDebra SMD, PhDdregier@childrensnational.orgOetgenMatthewMDmoetgen@childrensnational.orgTanpaiboonPranootMDptanpaib@childrensnational.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMucopolysaccharidosis Type VIISynonyms: Beta-Glucuronidase Deficiency, MPS7, Sly SyndromeSunAngelaMDWangRaymondMDrawang@choc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMuenke SyndromeKruszkaPaulMD, MPHpkruszka@genedx.comRolleMyronMDmrolle@partners.orgKahleKristopher TMD, PhDkahle.kristopher@mgh.harvard.eduMuenkeMaximilianMD, FACMGmaxmuenke@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMulticentric Osteolysis Nodulosis and ArthropathySynonyms: Torg Syndrome, Torg-Winchester Syndrome, MMP2-Related Multicentric Osteolysis, Nodulosis, and ArthropathyBhavaniGandham SriLakshmiMSc, PhDgsl.bhavani@manipal.eduShahHiteshMShiteshshah12@gmail.comShuklaAnjuMD, DManju.shukla@manipal.eduGirishaKatta MohanMD, DMgirish.katta@manipal.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMultiple Acyl-CoA Dehydrogenase DeficiencySynonyms: Electron Transfer Flavoprotein Dehydrogenase Deficiency, Glutaric Acidemia II, Glutaric Aciduria II, MADDPrasunPankajMDIcahn School of Medicine at Mount SinaiNew York, New Yorkpankaj.prasun@mssm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMultiple Endocrine Neoplasia Type 1Synonyms: MEN1, MEN1 Syndrome, Multiple Endocrine Adenomatosis, Wermer SyndromeGiustiFrancescaMD, PhDfrancesca.giusti@unifi.itMariniFrancescaPhDfrancesca.marini@unifi.itBrandiMaria LuisaMD, PhDmarialuisa@marialuisabrandi.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMultiple Endocrine Neoplasia Type 2Synonyms: MEN2, MEN2 SyndromeEngCharisMD, PhD, FACPengc@ccf.orgPlittGilmanMDplittg@ccf.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMultiple Endocrine Neoplasia Type 4Synonyms: MEN4, CDKN1B-Related Multiple Endocrine NeoplasiaBrockPamelaMS, CGCpamela.brock@osumc.eduKirschnerLawrenceMD, PhDlawrence.kirschner@osumc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMultiple Epiphyseal Dysplasia, Autosomal DominantBriggsMichael DPhDProfessor of Skeletal Genetics, Institute of Genetic MedicineNewcastle UniversityInternational Centre for LifeNewcastle upon Tyne, United Kingdommichael.briggs@newcastle.ac.ukWrightMichael JMB, ChB, MSc, FRCPConsultant Clinical Geneticist, Northern Genetics ServiceInstitute of Human GeneticsNewcastle upon Tyne, United Kingdommichael.wright19@nhs.netMortierGeert RMD, PhDChairman, Department of Clinical GeneticsDepartment of Human GeneticsKU LeuvenLeuven, Belgiumgeert.mortier@uzleuven.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMultiple Sulfatase DeficiencySchlotawaLarsMDlars.schlotawa@med.uni-goettingen.deAdangLauraMD, PhDadangl@email.chop.eduDe CastroMauricioMDmauricio.j.decastropretelt.mil@mail.milAhrens-NicklasRebeccaMD, PhDahrensnicklasr@email.chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMusculocontractural Ehlers-Danlos SyndromeSynonyms: mcEDS; Adducted Thumb-Clubfoot Syndrome (ATCS); Dündar Syndrome; Ehlers-Danlos Syndrome, Kosho Type (EDS-KT)KoshoTomokiMD, PhDDepartment of Medical GeneticsShinshu University School of Medicine;Center for Medical GeneticsShinshu University Hospital;Division of Clinical SequencingShinshu University School of Medicine;Research Center for Supports to Advanced ScienceShinshu University;BioBank ShinshuShinshu University HospitalMatsumoto, Japanktomoki@shinshu-u.ac.jpYamaguchiTomomiPhDDepartment of Medical GeneticsShinshu University School of Medicine;Center for Medical GeneticsShinshu University Hospital;Division of Clinical SequencingShinshu University School of MedicineMatsumoto, Japant_yamaguchi@shinshu-u.ac.jpMizumotoShujiPhDDepartment of PathobiochemistryFaculty of PharmacyMeijo UniversityNagoya, Japanmizumoto@meijo-u.ac.jpMendoza-LondonoRobertoMD, MS, FACMG, FCCMGDivision of Clinical and Metabolic GeneticsDepartment of PædiatricsThe Hospital for Sick Children and University of TorontoToronto, Canadaroberto.mendoza@sickkids.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MUTYH</italic> PolyposisSynonyms: Multiple Colorectal Adenomas, Autosomal Recessive; MUTYH-Associated Polyposis (MAP)NielsenMaartjeMDDepartment of Clinical GeneticsLeiden University Medical CenterLeiden, Netherlandsm.nielsen@lumc.nlInfanteElenaMS, CGCDepartment of PediatricsDivision of Medical GeneticsUPMC Children’s Hospital of PittsburghPittsburgh, Pennsylvaniainfanteem@upmc.eduBrandRandallMDDepartment of MedicineDivision of Gastroenterology, Hepatology, and NutritionUniversity of PittsburghPittsburgh, Pennsylvaniabrandre@pitt.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MYH9</italic>-Related DiseaseSavoiaAnnaPhDDepartment of Medical SciencesInstitute for Maternal and Child Health – IRCCS Burlo GarofoloUniversity of TriesteTrieste, Italyanna.savoia@burlo.trieste.itPecciAlessandroMD, PhDIRCCS Policlinico San Matteo Foundation;Department of Internal MedicineUniversity of PaviaPavia, Italyalessandro.pecci@unipv.it\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMyhre SyndromeSynonym: Myhre-LAPS SyndromeLinAngela EMDalin@mgb.orgBrunetti-PierriNicolaMDbrunetti@tigem.itLindsayMark EMD, PhDlindsay.mark@mgh.harvard.eduSchimmentiLisa AMDschimmenti.lisa@mayo.eduStarrLois JMD, PhDlstarr@unmc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMyotonia CongenitaDunøMortenPhDMolecular Genetic LaboratoryDepartment of Clinical GeneticsRigshospitaletUniversity of CopenhagenCopenhagen, Denmarkmorten.dunoe@regionh.dkVissingJohnMD, DMSciNeuromuscular Clinic and Research UnitDepartment of NeurologyRigshospitaletUniversity of CopenhagenCopenhagen, Denmarkjohn.vissing@regionh.dk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMyotonic Dystrophy Type 1Synonym: Steinert's DiseaseBirdThomas DMDSeattle VA Medical Center;Departments of Neurology and MedicineUniversity of WashingtonSeattle, Washingtontomnroz@uw.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nMyotonic Dystrophy Type 2Synonym: Proximal Myotonic Myopathy (PROMM)KleefeldFelixMDfelix.kleefeld@bergmannsheil.deErdmannHannesMD, MSchannes.erdmann@med.uni-muenchen.deSchoserBenediktMDbenedikt.schoser@med.uni-muenchen.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">MYRF</italic>-Related Cardiac Urogenital SyndromeKaplanJulie DMDCleveland Clinic FoundationCleveland, Ohiokaplanj3@ccf.orgStewartBlytheUniversity of EdinburghEdinburgh, United Kingdomb.stewart-6@sms.ed.ac.ukPrasovLevMD, PhDUniversity of Michigan Medical SchoolAnn Arbor, Michiganlprasov@umich.eduPyleTucker Louise CMD, PhDChildren's National Medical CenterWashington, DClpyle@cnmc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNail-Patella SyndromeSynonym: LMX1B-Related Nail-Patella SyndromeHoover-FongJulie EMD, PhDProfessor, McKusick-Nathans Department of Genetic Medicine; Director, Greenberg Center for Skeletal DysplasiasJohns Hopkins UniversityBaltimore, Marylandjhoover2@jhmi.eduMcIntoshIainPhDPresident, Bendel Camus Medical Education, Inc.iain@bendelcamus.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NARS1</italic>-Related Neurologic DisordersEfthymiouStephanieMSc, PhDs.efthymiou@ucl.ac.ukNagySaraMD, MScs.nagy@ucl.ac.ukAynekinBusraPhDb.aynekin@ucl.ac.ukHouldenHenryMD, PhDh.houlden@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NDP-</italic>Related RetinopathiesScruggsBrittni AMD, PhDSenior Associate ConsultantVitreoretinal Surgery & DiseasesDepartment of OphthalmologyMayo ClinicRochester, Minnesotascruggs.brittni@mayo.eduRedingMadeline QMS, MPH, CGCGenetic Counselor, Clinical GenomicsMayo ClinicRochester, Minnesotareding.madeline@mayo.eduSchimmentiLisa AMDCo-Director, Medical Scientist Training Program (MD/PhD)Assistant Dean, MD/PhD Affairs MCGSBSProfessor, Pediatrics Consultant, Departments of Clinical Genomics, Otorhinolaryngology, Head and Neck Surgery, Ophthalmology, and Biochemistry and Molecular BiologyMayo Clinic School of MedicineRochester, Minnesotaschimmenti.lisa@mayo.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNephronophthisis-Related CiliopathiesSynonym: NPHP-RCStokmanMarijnMD, PhDDepartment of Human GeneticsRadboud University Medical CentreNijmegen, the Netherlandsmarijn.stokman@radboudumc.nlLilienMarcMD, PhDDepartment of Pediatric NephrologyWilhelmina Children's HospitalUniversity Medical Center UtrechtUtrecht, the Netherlandsm.lilien@umcutrecht.nlKnoersNineMD, PhDDepartment of GeneticsUniversity Medical Center GroningenGroningen, the Netherlandsv.v.a.m.knoers@umcg.nl\n\nSummary\n\n Clinical Characteristics of Nephronophthisis-Related Ciliopathies\n\n Genetic Causes of Nephronophthisis-Related Ciliopathies\n\n Differential Diagnosis of Nephronophthisis-Related Ciliopathies\n\n Evaluation Strategies to Identify the Genetic Cause of a Nephronophthisis-Related Ciliopathy in a Proband\n\n Management of Nephronophthisis-Related Ciliopathies\n\n Genetic Counseling of Nephronophthisis-Related Ciliopathies\n\nResources\n\nChapter Notes\n\nReferences\n\nNeurocutaneous Disorders due to Mitochondrial Proline Synthesis DefectsFischer-ZirnsakBjörnDr. rer. medicInstitute for Medical Genetics and Human GeneticsCharité-Universitaetsmedizin BerlinBerlin, Germanybjoern.fischer@charite.deCallewaertBert LMD, PhDCenter for Medical GeneticsGhent University Hospital;Department of Biomolecular MedicineGhent UniversityGhent, Belgiumbert.callewaert@ugent.beGardeitchikThatjanaMDDepartment of Human GeneticsRadboudumc Medical CenterNijmegen, the Netherlandsthatjana.gardeitchik@radboudumc.nlKornakUweMD, PhDInstitute of Human GeneticsUniversity Medical CenterGöttingen, Germanyuwe.kornak@med.uni-goettingen.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNeurodegeneration with Brain Iron Accumulation Disorders OverviewGregoryAllisonMS, CGCgregorya@ohsu.eduKurianManju AMA, MBBChir, PhDmanju.kurian@ucl.ac.ukWilsonJennyMDwilsjen@ohsu.eduHayflickSusanMDhayflick@ohsu.edu\n\nSummary\n\n Clinical Characteristics of Neurodegeneration with Brain Iron Accumulation\n\n Genetic Causes of Neurodegeneration with Brain Iron Accumulation\n\n Differential Diagnosis of Neurodegeneration with Brain Iron Accumulation\n\n Evaluation Strategies to Identify the Genetic Cause of Neurodegeneration with Brain Iron Accumulation in a Proband\n\n Management of Neurodegeneration with Brain Iron Accumulation\n\n Genetic Counseling of Family Members of an Individual with Neurodegeneration with Brain Iron Accumulation\n\nResources\n\nChapter Notes\n\nReferences\n\nNeuroferritinopathySynonym: Hereditary FerritinopathyChinneryPatrick FBMedSci, MBBS, PhD, FRCPath, FRCP, FMedSciDepartment of Clinical NeurosciencesUniversity of CambridgeCambridge, United Kingdompfc25@medschl.cam.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNeurofibromatosis 1Synonyms: NF1, Von Recklinghausen Disease, Von Recklinghausen's NeurofibromatosisFriedmanJan MMD, PhDDepartment of Medical GeneticsUniversity of British ColumbiaVancouver, Canadajan.friedman@ubc.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNeuronal Ceroid Lipofuscinoses OverviewSynonyms: Batten Disease, CLN Disease, NCLMalikKristinaMDkristina.malik@childrenscolorado.orgSantucciKourtneyMDkourtney.santucci@childrenscolorado.orgSrembaLeighannMSleighann.sremba@childrenscolorado.orgSteenariMaijaMDmsteenari@choc.orgMieleAndreaPhDandrea.miele@childrenscolorado.orgDemarestScottMD, MSCSscott.demarest@childrenscolorado.orgWhitemanInekaPhDresearch@bdsraaustralia.org\n\nSummary\n\n Clinical Characteristics of Neuronal Ceroid Lipofuscinoses\n\n Genetic Causes of Neuronal Ceroid Lipofuscinoses\n\n Evaluation Strategies to Identify the Genetic Cause of a Neuronal Ceroid Lipofuscinosis in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nNevoid Basal Cell Carcinoma SyndromeSynonyms: Basal Cell Nevus Syndrome (BCNS), Gorlin Syndrome, NBCCSEvansD GarethMD, FRCPGenomic MedicineDivision of Evolution, Infection and GenomicsManchester Academic Health Science Centre;Consultant in Medical GeneticsSt Mary's Hospital and Christie Hospital;Professor of Medical Genetics and Cancer EpidemiologyUniversity of ManchesterManchester, United Kingdomgareth.evans@mft.nhs.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NF2</italic>-Related SchwannomatosisSynonyms: Neurofibromatosis 2, Neurofibromatosis Type IIEvansD GarethMD, FRCPDirector, Neurofibromatosis ClinicManchester University Hospitals;Foundation NHS Trust Regional Genetic ServiceSt Mary's HospitalManchester, United Kingdomgareth.evans@mft.nhs.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NFIA</italic>-Related DisorderSynonym: NFIA HaploinsufficiencySenaratneT NiroshiniPhDPathology and Laboratory MedicineClinical Genomics CenterDavid Geffen School of MedicineUniversity of California, Los AngelesLos Angeles, Californiatsenaratne@mednet.ucla.eduQuintero-RiveraFabiolaMDProfessor, Pathology and Laboratory MedicineSchool of MedicineUniversity of California, IrvineOrange, Californiafabiolaq@hs.uci.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NFIX</italic>-Related Malan SyndromeSynonyms: Sotos-Like Syndrome, Sotos Syndrome 2PrioloManuelaMDOperative Unit of Medical Genetics and Laboratory of GeneticsAORN A CardarelliNaples, Italymanuela.priolo@aocardarelli.itprioloma@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NGLY1</italic>-Related Congenital Disorder of DeglycosylationSynonyms: NGLY1-CDDG, NGLY1 Deficiency, NGLY1-Related DisorderLamChristinaMD, FACMGUniversity of WashingtonSeattle Children's HospitalSeattle, Washingtonctlam2@uw.eduWolfeLynneMS, CRNPNational Institutes of HealthBethesda, Marylandwolfela@mail.nih.govNeedAnnaPhDImperial College LondonLondon, United Kingdoma.need@imperial.ac.ukShashiVandanaMDDuke UniversityDurham, North Carolinavandana.shashi@duke.eduEnnsGregoryMD, FACMGStanford UniversityStanford, Californiagenns@stanford.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNiemann-Pick Disease Type CSynonym: Niemann-Pick Type C Disease (NPCD)Bremova-ErtlTatianaMDDepartment of Neurology, University Hospital Bern (Inselspital),Switzerlandtatiana.bremova-ertl@insel.chPattersonMarcMDEmeritus Professor, Neurology, Pediatrics and Medical GeneticsMayo ClinicRochester, Minnesotapatterson.marc@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNijmegen Breakage SyndromeVaronRaymondaPhDInstitute of Medical and Human GeneticsCharité – Universitätsmedizin BerlinBerlin, Germanyraymonda.varon-mateeva@charite.deDemuthIljaPhDDepartment of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Biology of Aging Working GroupCharité – Universitätsmedizin BerlinBerlin, GermanyIlja.demuth@charite.deChrzanowskaKrystyna HMD, PhDChildren's Memorial Health InstituteWarsaw, Polandk.chrzanowska@ipczd.pl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NKX2-1</italic>-Related DisordersPatelNeepa JayantMDAssociate ProfessorDivision of Movement DisordersDepartment of Neurological SciencesRUSH University Medical CenterChicago, Illinoisneepa_patel@rush.eduJankovicJosephMDProfessor of NeurologyDistinguished Chair in Movement DisordersDirector, Parkinson's Disease Center and Movement Disorders ClinicDepartment of NeurologyBaylor College of MedicineHouston, Texasjosephj@bcm.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NKX6-2</italic>-Related DisorderSynonyms: NKX6-2-Related Spastic Ataxia with Hypomyelination, SPAX8ChelbanVioricaMDv.chelban@ucl.ac.ukKayaNamikPhDnkaya@kfshrc.edu.saAlkurayaFowzanMDfalkuraya@kfshrc.edu.saHouldenHenryMD, PhDh.houlden@ucl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNonketotic HyperglycinemiaSynonym: NKHVan HoveJohan LKMD, PhDjohan.vanhove@childrenscolorado.orgCoughlinCurtisIIMS, MBecurtis.coughlin@childrenscolorado.orgSwansonMichaelPhDmike.swanson@ucdenver.eduHennermannJulia BMD, PhDjulia.hennermann@unimedizin-mainz.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNonsyndromic 46,XX Testicular Disorders/Differences of Sex DevelopmentSynonym: 46,XX Testicular DSDDélotEmmanuèle CPhDedelot@childrensnational.orgVilainEric JMD, PhD, FACMGevilain@childrensnational.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNonsyndromic Disorders of Testicular Development OverviewMohnachLaurenMSlmohnach@umich.eduFechnerPatricia YMDpatricia.fechner@seattlechildrens.orgKeeganCatherine EMD, PhDkeeganc@med.umich.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\n Clinical Characteristics of Nonsyndromic Disorders of Testicular Development\n\n Causes of Nonsyndromic Disorders of Testicular Development\n\n Evaluation Strategies to Identify the Genetic Cause of Nonsyndromic Disorders of Testicular Development\n\n Management\n\n Genetic Risk Assessment\n\nResources\n\nChapter Notes\n\nReferences\n\nNonsyndromic Genetic Hyperinsulinism OverviewSynonyms: Congenital Hyperinsulinism (CHI), Familial Hyperinsulinism, Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI)GillisDavidMDHadassah Hebrew University HospitalJerusalem, Israeldgillis@hadassah.org.il\n\nSummary\n\n Clinical Characteristics of Nonsyndromic Genetic Hyperinsulinism\n\n Causes of Nonsyndromic Genetic Hyperinsulinism\n\n Evaluation Strategies to Identify the Genetic Cause of Nonsyndromic Genetic Hyperinsulinism in a Proband\n\n Medical Management of Nonsyndromic Genetic Hyperinsulinism Based on Genetic Cause\n\n Risk Assessment and Surveillance of At-Risk Relatives for Early Detection and Treatment of Nonsyndromic Genetic Hyperinsulinism\n\nResources\n\nChapter Notes\n\nReferences\n\nNonsyndromic Hearing Loss and Deafness, MitochondrialUsamiShin-ichiMD, PhDProfessor and Chairman, Department of Otorhinolaryngology\nShinshu University School of Medicine\nMatsumoto, Japanusami@shinshu-u.ac.jpNishioShin-yaPhDAssistant Professor, Department of Otorhinolaryngology\nShinshu University School of Medicine\nMatsumoto, Japannishio@shinshu-u.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNonsyndromic Hypertrophic Cardiomyopathy OverviewCirinoAllison LMS, CGCChannaouiNadineMS, CGCHoCarolynMD\n\nSummary\n\n Clinical Characteristics of Hypertrophic Cardiomyopathy\n\n Genetic Causes of Nonsyndromic Hypertrophic Cardiomyopathy\n\n Differential Diagnosis of Nonsyndromic Hypertrophic Cardiomyopathy\n\n Evaluation Strategy to Identify (when Possible) the Genetic Cause of Hypertrophic Cardiomyopathy\n\n Management of Hypertrophic Cardiomyopathy\n\n Genetic Counseling of Family Members of an Individual with Nonsyndromic Hypertrophic Cardiomyopathy\n\nResources\n\nChapter Notes\n\nReferences\n\nNonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy OverviewSynonyms: EOSRD, LCAKumaranNerubanBSc, MBBS, PhD, FRCOphthn.kumaran@nhs.netPennesiMark EMD, PhDpennesi@retinafoundation.orgYangPaulMD, PhDyangp@ohsu.eduTrzupekKarmen MMS, CGCktrzupek@informeddna.comMichaelidesMichelBSc, MBBS, MD(Res), FRCOphth, FACSmichel.michaelides@ucl.ac.uk\n\nSummary\n\n Clinical Characteristics of Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy\n\n Causes of Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy\n\n Differential Diagnosis of Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy\n\n Evaluation Strategies to Identify the Genetic Cause of Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy in a Proband\n\n Management of Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Based on Genetic Cause\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nNonsyndromic Malignant Hyperthermia SusceptibilitySynonym: Malignant HyperpyrexiaRiaziSheilaMDProfessor, Department of AnesthesiaUniversity of TorontoToronto, Ontariosheila.riazi@uhn.caBieseckerLeslie GMDCenter for Precision Health ResearchNational Human Genome Research InstituteNational Institutes of HealthBethesda, Marylandlesb@mail.nih.govRosenbergHenryMDPresident Emeritus of MHAUS and Courtesy Clinical Professor of AnesthesiologyUniversity of FloridaGainesville, Floridahenryrosenberg@yahoo.comDirksenRobert TPhDProfessor, Department of Pharmacology and PhysiologyUniversity of Rochester Medical CenterRochester, New Yorkrobert_dirksen@urmc.rochester.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNonsyndromic Retinitis Pigmentosa OverviewFahimAbigail TMD, PhDKellogg Eye CenterUniversity of Michigan Medical SchoolAnn Arbor, Michiganahteich@med.umich.eduDaigerStephen PPhDProfessor, Human Genetics CenterSchool of Public HealthRuiz Department of Ophthalmology and Visual ScienceUniversity of Texas Health Science CenterHouston, Texasstephen.p.daiger@uth.tmc.eduWeleberRichard GMD, DABMG, FACMGProfessor, Department of Ophthalmology and Molecular and Medical GeneticsOregon Retinal Degeneration CenterCasey Eye InstituteOregon Health Sciences UniversityPortland, Oregonweleberr@ohsu.edu\n\nSummary\n\n Clinical Characteristics of Nonsyndromic Retinitis Pigmentosa\n\n Causes of Nonsyndromic Retinitis Pigmentosa\n\n Evaluation Strategy to Identify the Genetic Cause of Nonsyndromic Retinitis Pigmentosa in a Proband\n\n Management of Nonsyndromic Retinitis Pigmentosa\n\n Genetic Risk Assessment\n\nResources\n\nChapter Notes\n\nReferences\n\nNonsyndromic Tooth Agenesis OverviewLetraAriadneDDS, MS, PhDariadne.m.letra@uth.tmc.eduChiquetBrettDDS, PhDbrett.t.chiquet@uth.tmc.eduHansen-KissEmilyMS, MA, CGCemily.hansenkiss@uth.tmc.eduMenezesSimoneBSsimone.a.menezes@uth.tmc.eduHunterElizabethBSelizabeth.c.hunter@uth.tmc.edu\n\nSummary\n\n Clinical Characteristics of Nonsyndromic Tooth Agenesis\n\n Causes of Nonsyndromic Tooth Agenesis\n\n Evaluation Strategies to Identify the Genetic Cause of Nonsyndromic Tooth Agenesis in a Proband\n\n Management\n\n Genetic Risk Assessment\n\nResources\n\nChapter Notes\n\nReferences\n\nNoonan SyndromeRobertsAmy EMDCo-Director, Center for Cardiovascular GeneticsDepartment of Cardiology and Division of GeneticsDepartment of PediatricsBoston Children's HospitalBoston, Massachusettsamy.roberts@cardio.chboston.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nNoonan Syndrome with Multiple LentiginesSynonyms: LEOPARD Syndrome, Multiple Lentigines SyndromeGelbBruce DMDDepartments of Pediatrics and Genetics and Genomic SciencesMindich Child Health and Development InstituteIcahn School of Medicine at Mount SinaiNew York, New Yorkbruce.gelb@mssm.eduTartagliaMarcoPhDGenetics and Rare Disease Research DivisionBambino Gesú Children’s Hospital IRCSSRome, Italymarco.tartaglia@opbg.net\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NOTCH3</italic>-Related Lateral Meningocele SyndromeSynonym: Lehman SyndromeEjazReshamMD, FRCPCDivision of GeneticsDepartment of PediatricsMcMaster Children’s HospitalHamilton, Ontario, Canadaejazr@mcmaster.caCarterMelissaMD, MScThe Children’s Hospital of Eastern OntarioOttawa, Canadamcarter@cheo.on.caGrippKarenMDAlfred I DuPont Hospital for ChildrenWilmington, Delawarekaren.gripp@nemours.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NR0B1-</italic>Related Adrenal Hypoplasia CongenitaAchermannJohn CMB, MD, PhD, FRCPCHGenetics and Genomic Medicine\nUCL Great Ormond Street Institute of Child Health\nUniversity College London\nLondon, United Kingdomj.achermann@ucl.ac.ukVilainEric JMD, PhD, FACMGCenter for Genetic Medicine Research\nChildren's National Medical Center\nWashington, DCevilain@childrensnational.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">NR2F1</italic>-Related Neurodevelopmental DisorderSynonym: Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS)SchaafChristian PMD, PhDchristian.schaaf@med.uni-heidelberg.deYu-Wai-ManPatrickBMedSci, MBBS, PhD, FRCPath, FRCOphthpy237@cam.ac.ukValentinIliaMDilia.valentin@med.uni-heidelberg.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NSDHL</italic>-Related DisordersKurbanMazenMDTenured Professor of DermatologyBiochemistry and Molecular GeneticsAmerican University of Beirut Medical CenterBeirut, Lebanonmk104@aub.edu.lbEl FeghalyJiniaMDAssistant Professor of Dermatology and PediatricsUniversity of Rochester Medical CenterRochester, New Yorkjiniaelfeghalymd@gmail.comHamieLamiaaMD, MScSpecialist DermatologistMediclinic Middle EastDubai, United Arab Emiratesdr.lamiaahamie@outlook.com\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NTHL1</italic> Tumor SyndromeSynonym: NTHL1-Associated PolyposisDe VoerRicharda MPhDricharda.devoer@radboudumc.nlNielsenMaartjeMD, PhDm.nielsen@lumc.nlGaoWeilunMDalan.gao@mh.org.auKuiperRoland PPhDr.kuiper@prinsesmaximacentrum.nlHoogerbruggeNicolineMD, PhDnicoline.hoogerbrugge@radboudumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">NTRK1</italic> Congenital Insensitivity to Pain with AnhidrosisSynonym: Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)IndoYasuhiroMD, PhDDepartment of PediatricsKumamoto University HospitalKumamoto, Japanyindo@kumamoto-u.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nNuclear Gene-Encoded Leigh Syndrome Spectrum OverviewRahmanShamimaFRCP, FRCPCH, PhDshamima.rahman@ucl.ac.ukThorburnDavid RPhDdavid.thorburn@mcri.edu.auBallMeganMDmegan.ball@mcri.edu.au\n\nSummary\n\n Clinical Characteristics of Nuclear Gene-Encoded Leigh Syndrome Spectrum\n\n Causes of Nuclear Gene-Encoded Leigh Syndrome Spectrum\n\n Differential Diagnosis of Nuclear Gene-Encoded Leigh Syndrome Spectrum\n\n Evaluation Strategies to Identify the Genetic Cause of Nuclear Gene-Encoded Leigh Syndrome Spectrum in a Proband\n\n Management of Nuclear Gene-Encoded Leigh Syndrome\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nOculocutaneous Albinism and Ocular Albinism OverviewThomasMervyn GMBChB, PhD, FRCOphthUlverscroft Eye UnitCollege of Life SciencesSchool of Psychology and Vision SciencesUniversity of LeicesterLeicester, UKmt350@le.ac.ukZippinJonathanMD, PhDDepartment of DermatologyJoan and Sanford I Weill Medical College of Cornell UniversityNew York, New Yorkjhzippin@med.cornell.eduBrooksBrian PMD, PhDOphthalmic Genetics and Visual Function BranchNational Eye InstituteNational Institutes of HealthBethesda, Marylandbrooksb@nei.nih.gov\n\nSummary\n\n Clinical Characteristics of Oculocutaneous Albinism and Ocular Albinism\n\n Genetic Causes of Oculocutaneous Albinism and Ocular Albinism\n\n Differential Diagnosis of Ocular Findings in Oculocutaneous Albinism and Ocular Albinism\n\n Evaluation Strategies to Identify the Genetic Cause of Oculocutaneous Albinism or Ocular Albinism in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nOculocutaneous Albinism Type 4Synonyms: OCA4, SLC45A2-Related Oculocutaneous AlbinismSuzukiTamioMD, PhDtamsuz@med.id.yamagata-u.ac.jpOkamuraKenMD, PhDk-okamura@med.id.yamagata-u.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nOculopharyngeal Muscular DystrophySynonym: OPMDTrolletCapucinePhDcapucine.trollet@upmc.frBoulinguiezAlexisPhDalexis.boulinguiez@inserm.frRothFannyPhDfanny.roth0106@gmail.comStojkovicTanyaMDstojkovic.tanya@aphp.frButler-BrowneGillianPhDgillian.butler-browne@upmc.frEvangelistaTeresinhaMDt.evangelista@institut-myologie.orgLacau St GuilyJeanMDjean.lacau@aphp.frRichardPascalePharmD, PhDpascale.richard@aphp.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nOkur-Chung Neurodevelopmental SyndromeSynonym: CSNK2A1-Related Neurodevelopmental SyndromeChungWendyMD, PhD, FACMGDepartments of Pediatrics and MedicineColumbia UniversityNew York, New Yorkwkc15@columbia.eduOkurVolkanMD, FACMGNew York Genome CenterNew York, New Yorkvokur@nygenome.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nOral-Facial-Digital Syndrome Type ISynonyms: OFD1, Orofaciodigital Syndrome IFrancoBrunellaMDPrincipal Investigator, Telethon Institute of Genetics and Medicine;Professor, Medical GeneticsDepartment of Translational Medical SciencesUniversity of Naples Federico IINaples, Italyfranco@tigem.itBruelAnge-LinePhDResearch Engineer, Genetics of Disorders of Development TeamUniversity of BurgundyDijon, Franceangeline.bruel@gmail.comThauvin-RobinetChristelMD, PhDAssistant and Research Investigator, University Hospital Federation - Translational Medicine and Developmental Anomalies;Professor, Medical GeneticsChildren's Hospital Genetic CenterGenetics of Disorders of Development TeamUniversity of BurgundyDijon, Francechristel.thauvin@chu-dijon.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nOrnithine Transcarbamylase DeficiencySynonyms: Ornithine Carbamoyltransferase Deficiency, OTC DeficiencyLichter-KoneckiUtaMD, PhDuta.lichterkonecki@chp.eduCaldovicLjubicaPhDMorizonoHirokiPhDSimpsonKaraMS, CGCAh MewNicholasMDMacLeodErinPhD, RD, LD\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nOsteoglophonic DysplasiaSynonyms: FGFR1-Related Osteoglophonic Dysplasia, Osteoglophonic Dwarfism, Fairbank-Keats SyndromeOthmanAmna AMBBChamna.othman@nih.govBabcockHolly EMSholly.babcock@nih.govFerreiraCarlos RMDcarlos.ferreira@nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nOsteopathia Striata with Cranial SclerosisSynonyms: Horan-Beighton Syndrome, OS-CS, AMER1-Related Osteopathia Striata with Cranial SclerosisGearRussellMBChBrussellgear@hotmail.comSavarirayanRaviMBBS, MD, FRACP, ARCPA (Hon)ravi.savarirayan@mcri.edu.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">OTOF</italic>-Related Hearing LossSynonyms: DFNB9, Otoferlin-Related Hearing LossAzaiezHelaPhDhazaiez@iu.eduThorpeRyan KMDryan-thorpe@uiowa.eduOdellAmanda MMS, LGCamanda-odell@uiowa.eduSmithRichard JHMDrichard-smith@uiowa.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPachyonychia CongenitaSmithFrances JDPhDPachyonychia Congenita ProjectSchool of Life SciencesUniversity of DundeeDundee, Scotland, United Kingdomfrances.smith@pachyonychia.orgHansenC DavidMDDepartment of DermatologyUniversity of UtahSalt Lake City, Utahdavid.hansen@hsc.utah.eduHullPeter RMD, PhD, FRCPCDivision of Clinical Dermatology and Cutaneoous ScienceDalhousie UniversityHalifax, Nova Scotia, Canadapeter.hull@dal.caKasparRoger LPhDTransderm, IncSanta Cruz, Californiaroger.kaspar@transderminc.comMcLeanWH IrwinDSc, FRSEDivision of Biological Chemistry and Drug DiscoverySchool of Life SciencesUniversity of DundeeDundee, Scotland, United Kingdomw.h.i.mclean@dundee.ac.ukO’TooleEdelMD, PhD, FRCPI, FRCPCentre for Cutaneous ResearchBarts & the London School of Medicine and DentistryQueen Mary University of LondonLondon, England, United Kingdome.a.otoole@qmul.ac.ukSprecherEliMD, PhDDepartment of DermatologyTel Aviv Medical CenterTel Aviv, Israelelisp@tlvmc.gov.il\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PACS1</italic> Neurodevelopmental DisorderSynonym: Schuurs-Hoeijmakers SyndromeLuskLainaMMSc, CGCluskl@email.chop.eduSmithSimoneMScshsmith1@geisinger.eduMartinChristaPhD, FACMGclmartin1@geisinger.eduTaylorCoraPhDcmtaylor1@geisinger.eduChungWendyMD, PhD, FACMGwkc15@columbia.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PAFAH1B1</italic>-Related Lissencephaly / Subcortical Band HeterotopiaSynonym: LIS1-Related Lissencephaly / Subcortical Band HeterotopiaBrockStefanieMDDepartment of PathologyUniversitair Ziekenhuis Brussel;Neurogenetics Research GroupVrije UniversiteitBrussels, Belgiumstefanie.brock@uzbrussel.beDobynsWilliam BMDDepartment of Pediatrics (Genetics)University of MinnesotaMinneapolis, Minnesotawbdobyns@umn.eduJansenAnnaMD, PhDPediatric Neurology UnitDepartment of PediatricsUniversitair Ziekenhuis Brussel;Neurogenetics Research GroupVrije UniversiteitBrussels, Belgiumanna.jansen@uzbrussel.be\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPancreatitis OverviewSheltonCelestePhD, CGCClinical Variant Scientist, Ariel Precision MedicinePittsburgh, Pennsylvaniacshelton@arielmedicine.comLaRuschJessicaPhDLead Genetic Scientist, Ariel Precision MedicinePittsburgh, Pennsylvanialarusch@arielmedicine.comWhitcombDavid CMD, PhDDepartments of Medicine, Cell Biology & Physiology, and Human GeneticsDivision of Gastroenterology, Hepatology, and NutritionUniversity of Pittsburgh & University of Pittsburgh Medical CenterPittsburgh, Pennsylvaniawhitcomb@pitt.edu\n\nSummary\n\n Pancreatitis: Definitions\n\n Risk Factors and Etiologies of Recurrent Acute Pancreatitis / Chronic Pancreatitis\n\n Evaluation Strategies to Identify Genetic Risk Factors in a Proband with Pancreatitis\n\n Medical Management of Pancreatitis\n\n Genetic Risk Assessment\n\nResources\n\nChapter Notes\n\nReferences\n\nPantothenate Kinase-Associated NeurodegenerationSynonym: PKANGregoryAllisonMS, CGCGenetic Counselor and Assistant ProfessorOregon Health & Science UniversityPortland, Oregongregorya@ohsu.eduHayflickSusan JMDProfessor and Chair, Molecular and Medical GeneticsProfessor, Pediatrics and NeurologyOregon Health & Science UniversityPortland, Oregonhayflick@ohsu.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nParkin Type of Early-Onset Parkinson DiseaseSynonyms: PARK-Parkin, PRKN Parkinson DiseaseBrüggemannNorbertMDnorbert.brueggemann@neuro.uni-luebeck.deKleinChristineMDchristine.klein@neuro.uni-luebeck.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">PAX2</italic>-Related DisorderSynonyms: Papillorenal Syndrome, Renal Coloboma SyndromeBowerMatthew AMSDivision of Genetics and MetabolismUniversity of Minnesota Medical Center, FairviewMinneapolis, Minnesotambower1@fairview.orgSchimmentiLisa AMDProfessor, PediatricsSenior Associate Consultant, Otorhinolaryngology and Clinical GenomicsMayo ClinicRochester, Minnesotaschimmenti.lisa@mayo.eduEcclesMichael RPhDProfessor and Chair in Cancer Pathology, Department of PathologyDunedin School of MedicineUniversity of OtagoDunedin, New Zealand\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PAX6</italic> Aniridia SyndromeKitVivienneBSc, MBBS, FRCOphthOphthalmology Registrar, North Thames DeaneryNHS EnglandLondon, United Kingdomvivienne.kit@nhs.netOluonyeNgoziMBBS, MRCPCH, MScConsultant Neurodevelopmental PaediatricianGreat Ormond Street Hospital;Moorfields Eye HospitalLondon, United Kingdomn.oluonye@nhs.netMoosajeeMariyaMBBS, BSc, PhD, FRCOphthConsultant OphthalmologistProfessor of Molecular OphthalmologyMoorfields Eye Hospital;UCL Institute of OphthalmologyLondon, United Kingdomm.moosajee@ucl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPediatric Genetic Cholestatic Liver Disease OverviewAmendolaMariaMDDepartment of PediatricsUPMC Children's Hospital of PittsburghPittsburgh, Pennsylvaniamaria.lanyi@chp.eduSquiresJames EMD, MSDepartment of Pediatric Gastroenterology and HepatologyUPMC Children's Hospital of PittsburghPittsburgh, Pennsylvaniajames.squires2@chp.edu\n\nSummary\n\n Clinical Characteristics of Genetic Cholestatic Liver Disease\n\n Causes of Genetic Cholestatic Liver Disease\n\n Evaluation Strategies to Identify the Cause of a Genetic Cholestatic Liver Disease in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nPelizaeus-Merzbacher-Like Disease 1Synonyms: Hypomyelinating Leukodystrophy 2 (HLD2), PMLD1NahhasNorahMDnnahhas@childrensnational.orgConantAlexBSaconant@childrensnational.orgOrthmann-MurphyJenniferMD, PhDjorthma1@jhmi.eduVanderverAdelineMDavanderv@cnmc.orgvandervera@email.chop.eduHobsonGracePhDghobson@nemours.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nPeriodontal Ehlers-Danlos SyndromeSynonyms: EDS Type VIII, pEDSKapferer-SeebacherInesDMDines.kapferer@i-med.ac.atvan DijkFleur SMD, PhDfleur.dijk@nhs.netZschockeJohannesMD, PhDjohannes.zschocke@i-med.ac.at\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPermanent Neonatal Diabetes MellitusDe LeónDiva DMD, MSCEProfessor of PediatricsChildren's Hospital of Philadelphia;Perelman School of Medicine at University of PennsylvaniaPhiladelphia, Pennsylvaniadeleon@chop.eduPinneySara EMD, MSTRAssociate Professor of PediatricsChildren's Hospital of Philadelphia;Perelman School of Medicine at University of PennsylvaniaPhiladelphia, Pennsylvaniapinneys@chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPerrault Syndrome OverviewLiTianyiMD, PhDdr_lty@cqmu.edu.cnFaridiRabiaPhDrabia.faridi@nih.govNewmanWilliam GMD, PhDwilliam.newman@manchester.ac.ukFriedmanThomas BPhDfriedman@nidcd.nih.gov\n\nSummary\n\n Clinical Characteristics of Perrault Syndrome\n\n Genetic Causes of Perrault Syndrome\n\n Differential Diagnosis of Perrault Syndrome\n\n Evaluation Strategies to Identify the Genetic Cause of Perrault Syndrome in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nPeters Plus SyndromeSynonym: PTRPLSReisLinda MMS, LCGCDepartment of OphthalmologyMedical College of WisconsinMilwaukee, Wisconsinlreis@mcw.eduLevinAlex VMD, MHScDepartments of Ophthalmology and PediatricsFlaum Eye InstituteGolisano Children's HospitalUniversity of RochesterRochester, New Yorkalex_levin@urmc.rochester.eduBaselDonaldMDChief, Pediatric GeneticsMedical College of Wisconsin;Children's WisconsinMilwaukee, Wisconsindbasel@mcw.eduSeminaElena VPhDMarjorie and Joseph Heil Professor of Ophthalmology & Visual SciencesDepartments of Ophthalmology, Pediatrics, and Cell Biology, Neurobiology, and AnatomyMedical College of WisconsinMilwaukee, Wisconsinesemina@mcw.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPeutz-Jeghers SyndromeSynonym: PJSMcGarrityThomas JMDDepartment of Medicine\nMilton S Hershey Medical Center\nHershey, Pennsylvaniatmcgarrity@psu.eduAmosChristopher IPhDDepartment of Medicine\nBaylor College of Medicine\nHouston, Texaschris.amos@bcm.eduBakerMaria JPhDDepartment of Medicine\nMilton S Hershey Medical Center;\nPenn State Hershey Cancer Institute\nHershey, Pennsylvaniambaker@pennstatehealth.psu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PEX7-</italic>Related Rhizomelic Chondrodysplasia PunctataSynonyms: PEX7-Rhizomelic CDP, Rhizomelic Chondrodysplasia Punctata Type 1BravermanNancy EMS, MDnancy.braverman@mcgill.caCarrollRickiMD, MBEricki.carroll@nemours.orgMussCandacePA-C, LCGCcandace.muss@nemours.orgFallatahWedadMD, MAS, PhDfallatah@kennedykrieger.orgJainMahimMD, PhDmahim.jain@nemours.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPhelan-McDermid Syndrome-<italic toggle=\"yes\">SHANK3</italic> RelatedSynonym: 22q13.3 Deletion SyndromePhelanKatyPhD, FACMGDirector of GeneticsFlorida Cancer Specialists and Research InstituteFort Myers, Floridakphelan@flcancer.comRogersR CurtisMD, FACMGSenior Clinical GeneticistRCR GeneticsGreenville, South Carolinarcrgenetics@gmail.comBoccutoLuigiMDClinical Associate ProfessorClemson UniversityClemson, South Carolinalboccut@clemson.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPhenylalanine Hydroxylase DeficiencySynonyms: Hyperphenylalaninemia, PAH Deficiency, Phenylketonuria (PKU)ArnoldGeorgianneMDVirtual Medical PracticeUniversity of PittsburghPittsburgh, Pennsylvaniaglarnold2757@gmail.comVockleyJerryMD, PhDUniversity of PittsburghPittsburgh, Pennsylvaniavockleyg@upmc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPhosphoribosylpyrophosphate Synthetase DeficiencySynonym: PRS Deficiencyde BrouwerArjan PMPhDDepartment of Human GeneticsRadboud UniversityNijmegen Medical CenterNijmegen, the Netherlandsarjan.debrouwer@radboudumc.nlChristodoulouJohnMBBS, PhDDirector and Genomic Medicine Theme and Group Co-LeaderBrain and Mitochondrial Research GroupMurdoch Children's Research Institute;Chair of Genomic MedicineDepartment of PaediatricsUniversity of MelbourneMelbourne, Australiajohn.christodoulou@mcri.edu.au\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPhosphoribosylpyrophosphate Synthetase Superactivityde BrouwerArjan PMPhDDepartment of Human GeneticsRadboud University Nijmegen Medical CenterNijmegen, the Netherlandsarjan.debrouwer@radboudumc.nlChristodoulouJohnMBBS, PhDDirector and Genetics Theme/Group Co-Leader, Brain and Mitochondrial Research GroupMurdoch Children's Research InstituteChair in Genomic Medicine, Department of PædiatricsUniversity of MelbourneMelbourne, Australiajohn.christodoulou@mcri.edu.au\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPhosphorylase Kinase DeficiencySynonyms: Glycogen Storage Disease Type IX, GSDIX, PhK Deficiency, Phosphorylase b Kinase DeficiencyHerbertMruduMD, MPHDepartment of PediatricsUniversity of KentuckyLexington, Kentuckymrudu.herbert@uky.eduGoldsteinJennifer LPhDDepartment of GeneticsUniversity of North Carolina - Chapel HillChapel Hill, North Carolinagoldjen@email.unc.eduRehderCatherinePhDMolecular Genetics LaboratoryDuke University Medical CenterDurham, North Carolinacatherine.rehder@duke.eduAustinStephanieMS, MA, CGCAmicus Therapeutics, IncPhildelphia, Pennsylvaniasaustin@amicusrx.comKishnaniPriya SMDClinical GeneticsDepartment of PediatricsDuke University Medical CenterDurham, North Carolinapriya.kishnani@duke.eduBaliDeeksha SPhDBiochemical Genetics LaboratoryDuke University Medical CenterDurham, North Carolinadbali@duke.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PI4KA</italic>-Related DisorderBapleEmma LBSc, MBBS, MRCPCH, PhDe.baple@exeter.ac.ukSalterClaireBMedSci, BMBS, PGCert, MRCPCHc.salter@exeter.ac.ukUhligHolmholm.uhlig@ndm.ox.ac.ukWolfNicole IMD, PhDn.wolf@amsterdamumc.nlCrosbyAndrew HBSc, PhDa.h.crosby@exeter.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PIK3CA</italic>-Related Overgrowth SpectrumSynonym: PROSMirzaaGhaydaMD, FAAP, FACMGSeattle Children's Research InstituteSeattle, Washingtonghayda.mirzaa@seattlechildrens.orgGrahamJohn MJrMD, ScDCedars Sinai Medical CenterLos Angeles, Californiajohn.graham@cshs.orgKeppler-NoreuilKimMD, FAAP, FACMGUniversity of Wisconsin School of Medicine and Public HealthMadison, Wisconsinkepplernoreu@wisc.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PIK3R1</italic>-Related SHORT SyndromeInnesA MicheilMD, FRCPC, FCCMGDepartment of Medical GeneticsUniversity of Calgary;Alberta Children's Hospital Research Institute for Child and Maternal HealthCalgary, Alberta, Canadamicheil.innes@albertahealthservices.caNeufeldStanleyPhD, MDDepartment of Medical GeneticsUniversity of CalgaryCalgary, Alberta, Canadastanley.neufeld@albertahealthservices.caDymentDavid ADPhil, MD, FRCPC, FCCMGDepartment of GeneticsChildren's Hospital of Eastern Ontario Research InstituteOttawa, Ontario, Canadaddyment@cheo.on.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PINK1</italic> Type of Young-Onset Parkinson DiseaseSynonym: PARK-PINK1LangeLara MMDla.lange@uni-luebeck.deKleinChristineMDchristine.klein@uni-luebeck.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPitt-Hopkins SyndromeSynonym: TCF4-Related Pitt-Hopkins SyndromeSweetserDavid AMD, PhDDivision of Medical Genetics and MetabolismMassGeneral for Children;Center for Genomic MedicineBoston, Massachusettsdsweetser@mgh.harvard.eduGipsonKevin SMD, MSDivision of Pediatric Pulmonology and Sleep MedicineMassGeneral for ChildrenBoston, Massachusettskgipson@mgh.harvard.eduZar-KesslerClaireMD, MPHDivision of Pediatric Gastroenterology and NutritionMassGeneral for ChildrenBoston, Massachusettsczarkessler@mgh.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PLA2G6</italic>-Associated NeurodegenerationSynonyms: NBIA2, PLA2G6-Related Disorders, PLANGregoryAllisonMS, CGCMolecular & Medical GeneticsOregon Health & Science UniversityPortland, Oregongregorya@ohsu.eduKurianManju AMA, MRCPCH, PhDMolecular NeurosciencesDevelopmental NeurosciencesUCL-Great Ormond Street Institute of Child HealthLondon, United Kingdommanju.kurian@ucl.ac.ukSooAudrey KSBSc, MBBS, MRCPCH, PhDPaediatric NeurologyGreat Ormond Street Hospital for Children;UCL-Great Ormond Street Institute of Child HealthLondon, United Kingdoma.soo@ucl.ac.ukWilsonJenny LMDPediatric NeurologyOregon Health & Science UniversityPortland, Oregonwilsjen@ohsu.eduHogarthPenelopeMDNeurology and Molecular & Medical GeneticsOregon Health & Science UniversityPortland, Oregonhogarthp@ohsu.eduHayflickSusan JMDMolecular & Medical Genetics, Pediatrics, and NeurologyOregon Health & Science UniversityPortland, Oregonhayflick@ohsu.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PLOD1</italic>-Related Kyphoscoliotic Ehlers-Danlos SyndromeSynonyms: Ehlers-Danlos Syndrome Type VIA (EDS VIA), Lysyl-Hydroxylase 1 Deficiency, PLOD1-kEDSRohrbachMarianneMD, PhDmarianne.rohrbach@kispi.uzh.chGiuntaCeciliaPhDcecilia.giunta@kispi.uzh.ch\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PLP1-</italic>Related DisordersWolfNicole IMD, PhDDepartment of Child NeurologyAmsterdam University Medical CenterAmsterdam, The Netherlandsn.wolf@amsterdamumc.nlvan SpaendonkRosalina MLPhDDepartment of Human GeneticsAmsterdam University Medical CenterAmsterdam, The Netherlandsr.vervenne@amsterdamumc.nlHobsonGrace MPhDNemours Biomedical ResearchNemours Hospital for ChildrenWilmington, Delawareghobson@nemours.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPLPBP DeficiencySynonyms: PLPHP Deficiency, PROSC Deficiency, Pyridoxal 5'-Phosphate Homeostasis Protein Deficiency, Pyridoxal 5'-Phosphate-Binding Protein Deficiency, PDE-PLPBPAl-ShekailiHilalPhDCentre for Molecular Medicine and TherapeuticsBC Children's Hospital Research InstituteUniversity of British ColumbiaVancouver, Canadahalshekaili@bcchr.caCiapaiteJolitaPhDDepartment of GeneticsUniversity Medical Center UtrechtUtrecht, the Netherlandsj.ciapaite@umcutrecht.nlvan KarnebeekClaraMD, PhDDepartments of Pediatrics and Human GeneticsEmma Center for Personalized MedicineAmsterdam University Medical CentersAmsterdam, the Netherlandsc.d.vankarnebeek@amsterdamumc.nlPenaIzabellaPhDScientist, CHEO Research Institute;Assistant Professor, Faculty of Medicine, University of OttawaOttawa, Canadaipena@cheo.on.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPMM2-CDGSynonyms: CDG-Ia, Congenital Disorder of Glycosylation Type 1a (CDG1a), Phosphomannomutase 2 DeficiencyLamChristinaMDUniversity of Washington;Seattle Children’s Research InstituteSeattle, Washingtonctlam2@uw.eduKrasnewichDonna MMD, PhDNational Institutes of HealthBethesda, Marylanddkras@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PNPLA6</italic> DisordersSynofzikMatthisMDDepartment of Neurodegenerative DiseasesHertie Institute for Clinical Brain ResearchUniversity of TübingenTübingen, Germanymatthis.synofzik@uni-tuebingen.deHufnagelRobert BMD, PhDNational Eye InstituteNational Institutes of HealthBethesda, Marylandrobert.hufnagel@nih.govZüchnerStephanMD, PhDDr John T Macdonald Foundation Department of Human GeneticsJohn P Hussman Institute for Human GenomicsUniversity of Miami Miller School of MedicineMiami, Floridaszuchner@med.miami.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPNPO DeficiencySynonym: Pyridox(am)ine 5'-Phosphate Oxidase DeficiencyPleckoBarbaraMDProfessor of PediatricsService for Child Neurology and Inherited Metabolic DisordersDivision of General PediatricsDepartment of Pediatrics and Adolescent MedicineMedical University of GrazGraz, Austriabarbara.plecko@medunigraz.atMillsPhilippaPhDProfessor of Inherited Metabolic DiseasesUniversity College LondonGreat Ormond Street Institute of Child HealthLondon, United Kingdomp.mills@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPoikiloderma with NeutropeniaSynonym: Clericuzio-Type Poikiloderma with NeutropeniaWangLisaMDDepartment of PediatricsHematology/OncologyBaylor College of MedicineHouston, Texasllwang@bcm.eduClericuzioCarolMDEmeritus Professor of PediatricsDivision of Pediatric GeneticsUniversity of New Mexico School of MedicineAlbuquerque, New Mexicocclericuzio@salud.unm.eduLarizzaLidiaMDResearch Laboratory of Medical Cytogenetics & GeneticsIRCSS Istituto Auxologico ItalianoMilan, Italyl.larizza@auxologico.itConcolinoDanielaMDChief of PediatricsUniversity \"Magna Graecia\"Catanzaro, Italydconcolino@unicz.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">POLG</italic>-Related DisordersCohenBruce HMDNeuroDevelopmental Science Center and the Rebecca D Considine Research InstituteAkron Children's HospitalNortheast Ohio Medical UniversityAkron, Ohiobcohen@akronchildrens.orgChinneryPatrick FBMedSci, MBBS, PhD, FRCPath, FRCP, FMedSciDepartment of Clinical Neurosciences & MRC Mitochondrial Biology UnitUniversity of CambridgeCambridge, United Kingdompfc25@cam.ac.ukCopelandWilliam CPhDMitochondrial DNA Replication GroupGenome Integrity and Structural Biology LaboratoryNational Institute of Environmental Health Sciences / NIHResearch Triangle Park, North Carolinacopelan1@niehs.nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPOLR3-Related LeukodystrophySynonym: 4H LeukodystrophyBernardGenevièveMD, MSc, FRCPcDepartments of Neurology and Neurosurgery and Pediatrics, McGill UniversityDepartment of Medical Genetics, McGill University Health CenterChild Health and Human Development Program, Research Institute of the McGill University Health CenterMontreal, Quebec, Canadagenevieve.bernard@mcgill.caVanderverAdelineMDDivision of NeurologyChildren's Research InstituteChildren's Hospital of PhiladelphiaPhiladelphia, Pennsylvaniavandervera@email.chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPolycystic Kidney Disease, Autosomal DominantSynonym: ADPKDHarrisPeter CPhDharris.peter@mayo.eduTorresVicente EMD, PhDtorres.vicente@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPolycystic Lipomembranous Osteodysplasia with Sclerosing LeukoencephalopathySynonyms: Nasu-Hakola Disease, PLOSLPalonevaJuhaMD, PhDOulu University Hospital;University of OuluOulu, Finlandjuha.paloneva@fimnet.fiAuttiTainaMD, PhDUniversity of HelsinkiHelsinki Medical Imaging CenterHelsinki, Finlandtaina.autti@hus.fiSoljeEinoMD, PhDUniversity of Eastern Finland; Kuopio University HospitalKuopio, Finlandeino.solje@uef.fiHaltiaMatti JMD, PhDDepartment of PathologyHaartman InstituteUniversity of HelsinkiHelsinki, Finlandmatti.j.haltia@helsinki.fi\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPolymicrogyria Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLYStutterdChloe AMBBS, FRACPMurdoch Children's Research InstituteDepartment of PaediatricsUniversity of MelbourneRoyal Children's HospitalMelbourne, Australiachloe.stutterd@mcri.edu.auDobynsWilliam BMDDepartments of Pediatrics and NeurologyUniversity of WashingtonCenter for Integrative Brain ResearchSeattle Children's Research InstituteSeattle, Washingtonwbd@uw.eduJansenAnnaMD, PhDPediatric Neurology UnitUZ BrusselNeurogenetics Research GroupVrije Universiteit BrusselBrussels, Begiumanna.jansen@uzbrussel.beMirzaaGhaydaMDCenter for Integrative Brain ResearchSeattle Children's Research InstituteSeattle, Washingtongmirzaa@uw.eduLeventerRichard JMBBS, BMedSci, PhD, FRACPDepartment of NeurologyRoyal Children's HospitalMurdoch Children's Research InstituteDepartment of PaediatricsUniversity of MelbourneMelbourne, Australiarichard.leventer@rch.org.au\n\nSummary\n\n Definition and Clinical Characteristics of Polymicrogyria\n\n Genetic Causes of Polymicrogyria\n\n Evaluation Strategy to Identify the Genetic Cause of PMG in a Proband\n\n Genetic Counseling of Family Members of an Individual with PMG\n\nResources\n\nChapter Notes\n\nReferences\n\nPompe DiseaseSynonyms: Acid Alpha-Glucosidase Deficiency, Acid Maltase Deficiency, GAA Deficiency, Glycogenosis Type II, Glycogen Storage Disease Type II (GSD II)SperryEthanMD, PhDethan.sperry@cchmc.orgLeslieNancyMDnancy.leslie@cchmc.orgBerryLisaMSlisa.berry@cchmc.orgPenaLorenMD, PhDloren.pena@alumni.duke.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PORCN</italic>-Related Developmental DisordersSynonyms: Focal Dermal Hypoplasia, Goltz Syndrome, Goltz-Gorlin SyndromeSuttonV ReidMDProfessor, Department of Molecular and Human GeneticsBaylor College of MedicineHouston, Texasvrsutton@texaschildrens.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">POT1</italic> Tumor PredispositionAccardoMarie-LouiseMS, CGCmvhenry@med.umich.eduOsborneJenaeMS, CGCjenaej@med.umich.eduElseTobiasMDtelse@med.umich.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPotocki-Lupski SyndromeSynonyms: Duplication 17p11.2 Syndrome, PTLSPotockiLorraineMD, FACMGlpotocki@bcm.eduNeira-FresnedaJuanitaMDjuanita.neira@bcm.eduYuanBoPhDby2@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">PPP1R12A</italic>-Related Urogenital and/or Brain Malformation SyndromeAlkhunaiziEbbaMDDepartment of Clinical GeneticsNorth York General HospitalToronto, Ontario, Canadaebba.alkhunaizi@mail.mcgill.caChitayatDavidMDThe Prenatal Diagnosis and Medical Genetics ProgramDepartment of Obstetrics and GynecologyMount Sinai Hospital;Division of Clinical and Metabolic GeneticsDepartment of PediatricsThe Hospital for Sick ChildrenUniversity of TorontoToronto, Ontario, Canadadavid.chitayat@sinaihealth.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PPP1R21</italic>-Related El-Hattab-Schmidts SyndromeSynonyms: El-Hattab-Schmidts Syndrome; Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism, and Brain Abnormalities (NEDHFBA)AlmannaiMohammedMD, FAAP, FACMGGenetics and Precision Medicine Department (GPM)King Abdullah Specialized Children's Hospital (KASCH)King Abdulaziz Medical CityMinistry of National Guard Health Affairs (MNG-HA)Riyadh, Saudi Arabiammannai81@gmail.comMarafiDanaMD, MScAssistant Professor, Department of PediatricsCollege of MedicineKuwait UniversityKuwait City, Kuwaitdana.marafie@ku.edu.kwEl-HattabAyman WMD, FAAP, FACMGProfessor, Department of Clinical SciencesCollege of MedicineUniversity of SharjahSharjah, United Arab Emirateselhattabaw@yahoo.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PPP2R1A</italic>-Related Neurodevelopmental DisorderDouzgouSofiaMD, PhDsofia.douzgou.houge@helse-bergen.noJanssensVeerlePhDveerle.janssens@kuleuven.beHougeGunnarMD, PhDgunnar.douzgos.houge@helse-bergen.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PPP2R5D</italic>-Related Neurodevelopmental DisorderSynonyms: Jordan's Syndrome, PPP2 Syndrome Type R5DMirzaaGhaydaMDUniversity of WashingtonSeattle, Washingtonghayda.mirzaa@seattlechildrens.orgFossKimberlyMS, CGCUniversity of North Carolina at Chapel HillChapel Hill, North Carolinakimberly_foss@med.unc.eduSudnawaKhemikaMDPhramongkutklao Hospital; Phramongkutklao College of MedicineBangkok, Thailandk.sudnawa@pcm.ac.thChungWendy KMD, PhDBoston Children's Hospital;Harvard Medical SchoolBoston, Massachusettswendy.chung@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPrader-Willi SyndromeSynonym: Prader-Labhart-Willi SyndromeDriscollDaniel JMD, PhD, FFACMGG, FAAPProfessor of Pediatrics and GeneticsHayward Professor of Genetics ResearchUniversity of Florida College of MedicineGainesville, Floridadriscdj@peds.ufl.eduMillerJennifer LMD, MS, FAAPProfessor of PediatricsDivision of Pediatric EndocrinologyUniversity of Florida College of MedicineGainesville, Floridamillejl@peds.ufl.eduCassidySuzanne BMD, FFACMGGClinical Professor of PediatricsDivision of Medical GeneticsUniversity of California, San FranciscoSan Francisco, Californiasuzannecassidy@comcast.net\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PRICKLE1</italic>-Related DisordersMastrangeloMarioMD, PhDmario.mastrangelo@uniroma1.itCaputiCaterinaMDcaterina.caputi@uniroma1.itEspositoDarioMDdario.esposito@uniroma1.itLeuzziVincenzoMDvincenzo.leuzzi@uniroma1.it\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPrimary Carnitine DeficiencySynonyms: Carnitine Deficiency, Carnitine Transport Defect (CTD), Carnitine Uptake Defect (CUD), Systemic Primary Carnitine DeficiencyEl-HattabAyman WMD, FAAP, FACMGProfessor, Department of Clinical SciencesCollege of MedicineUniversity of SharjahSharjah, United Arab Emirateselhattabaw@yahoo.comAlmannaiMohammedMD, FAAP, FACMGGenetics and Precision Medicine department (GPM)King Abdullah Specialized Children's Hospital (KASCH)King Abdulaziz Medical CityMinistry of National Guard Health Affairs (MNG-HA)Riyadh, Saudi Arabiammannai81@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPrimary Ciliary DyskinesiaSynonyms: Immotile Cilia Syndrome, Kartagener SyndromeZariwalaMaimoona AMSc, PhD, FACMGDepartment of PediatricsMarsico Lung InstituteUniversity of North Carolina at Chapel HillChapel Hill, North Carolinazariwala@med.unc.eduDespotesKatherine AMDDepartment of PediatricsPediatric PulmonaryDepartment of MedicinePulmonary and Critical Care MedicineUniversity of North Carolina at Chapel HillChapel Hill, North Carolinakatherine.despotes@unchealth.unc.eduDavisStephanie DMDUNC Children’s;Department of PediatricsUniversity of North Carolina at Chapel HillChapel Hill, North Carolinastephanie_davis@med.unc.edu\n\nSummary\n\n Clinical Characteristics of Primary Ciliary Dyskinesia\n\n Causes of Primary Ciliary Dyskinesia\n\n Differential Diagnosis of Primary Ciliary Dyskinesia\n\n Evaluation Strategy to Identify the Genetic Cause of Primary Ciliary Dyskinesia\n\n Management\n\n Genetic Counseling of Family Members of an Individual with Primary Ciliary Dyskinesia\n\nResources\n\nChapter Notes\n\nReferences\n\nPrimary Coenzyme Q<sub>10</sub> Deficiency OverviewSynonym: Primary Ubiquinone DeficiencySalviatiLeonardoMD, PhDleonardo.salviati@unipd.itTrevissonEvaMD, PhDeva.trevisson@unipd.itAgostoCaterinaMDcaterina.agosto@aopd.veneto.itDoimoMaraPhDmara.doimo@unipd.itNavasPlacidoPhDpnavas@upo.es\n\nSummary\n\n Clinical Characteristics of Primary Coenzyme Q<sub>10</sub> Deficiency\n\n Genetic Causes of Primary Coenzyme Q<sub>10</sub> Deficiency\n\n Differential Diagnosis of Primary Coenzyme Q<sub>10</sub> Deficiency\n\n Evaluation Strategies to Identify the Genetic Cause of Primary Coenzyme Q<sub>10</sub> Deficiency in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nPrimary Familial and Congenital ErythrocytosisSynonyms: ECYT1, Familial Erythrocytosis Type 1, Primary Familial and Congenital PolycythemiaPrchalJosefMDUniversity of Utah; Huntsman Cancer Center;VA Health CareSalt Lake City, Utahjosef.prchal@hsc.utah.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPrimary Familial Brain Calcification OverviewBalckAlexanderMDalexander.balck@uni-luebeck.deKleinChristineMDchristine.klein@uni-luebeck.deWestenbergerAnaPhDana.westenberger@uni-luebeck.de\n\nSummary\n\n Clinical Characteristics of Primary Familial Brain Calcification\n\n Genetic Causes of Primary Familial Brain Calcification\n\n Differential Diagnosis of Primary Familial Brain Calcification\n\n Evaluation Strategies to Identify the Genetic Cause of Primary Familial Brain Calcification in a Proband\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nPrimary Hyperoxaluria Type 1MillinerDawn SMDmilliner.dawn@mayo.eduHarrisPeter CPhDharris.peter@mayo.eduSasDavid JDOsas.david@mayo.eduCogalAndrea GBScogal.andrea@mayo.eduLieskeJohn CMDlieske.john@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPrimary Hyperoxaluria Type 2Synonym: Glyoxylate Reductase/Hydroxypyruvate Reductase DeficiencyRumsbyGillPhD, FRCPathConsultant Clinical Scientist, Clinical BiochemistrUniversity College London HospitalsLondon, United Kingdomgill.rumsby@nhs.netHultonSally-AnneMD, FRCP, FRCPCH, MBBChConsultant Nephrologist, Birmingham Children’s HospitalNHS Foundation TrustBirmingham, United Kingdomsally.hulton@bch.nhs.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPrimary Hyperoxaluria Type 3MillinerDawn SMDmilliner.dawn@mayo.eduHarrisPeter CPhDharris.peter@mayo.eduSasDavid JDOsas.david@mayo.eduLieskeJohn CMDlieske.john@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPrimary Mitochondrial Disorders OverviewChinneryPatrick FBMedSci, MBBS, PhD, FRCPath, FRCP, FMedSciDepartment of Clinical NeurosciencesUniversity of CambridgeCambridge, United Kingdompfc25@medschl.cam.ac.uk\n\nSummary\n\n Clinical Characteristics of Mitochondrial Disorders\n\n Evaluation Strategies to Identify the Genetic Cause of a Mitochondrial Disorder in a Proband\n\n Patient Care Guidelines\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nPrimary Pyruvate Dehydrogenase Complex Deficiency OverviewSynonyms: PDH Deficiency (PDHD), PDHC Deficiency, Pyruvate Dehydrogenase Complex Deficiency Disease (PDCDD), Pyruvate Dehydrogenase DeficiencyGanetzkyRebeccaMDganetzkyr@chop.eduMcCormickElizabeth MMS, LCGCmccormicke@chop.eduFalkMarni JMDfalkm@chop.edu\n\nSummary\n\n Clinical Characteristics of Primary Pyruvate Dehydrogenase Complex Deficiency\n\n Causes of Primary Pyruvate Dehydrogenase Complex Deficiency\n\n Differential Diagnosis of Primary Pyruvate Dehydrogenase Complex Deficiency\n\n Evaluation Strategies to Identify the Genetic Cause of Primary Pyruvate Dehydrogenase Complex Deficiency in a Proband\n\n Management of Pyruvate Dehydrogenase Complex Deficiency Based on Genetic Cause\n\n Genetic Risk Assessment of Family Members of a Proband with Primary Pyruvate Dehydrogenase Complex Deficiency\n\nResources\n\nChapter Notes\n\nReferences\n\nPrimary TrimethylaminuriaSynonyms: Fish Odor Syndrome, FMO3 Deficiency, TMAU, TMAuriaPhillipsIan RPhDEmeritus Professor of Molecular BiologySchool of Biological and Chemical SciencesQueen Mary, University of LondonVisiting Professor, Division of BiosciencesUniversity College LondonLondon, United Kingdomi.r.phillips@qmul.ac.uki.r.phillips@ucl.ac.ukShephardElizabeth AMSc, PhDProfessor of Molecular BiologyDepartment of Structural and Molecular BiologyUniversity College LondonLondon, United Kingdome.shephard@ucl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPrimrose SyndromeAroraVeronicaMDveronicaarora@gmail.comFerreiraCarlos RMD, FACMGcarlos.ferreira@nih.govDua PuriRatnaMDratnadpuri@gmail.comVermaIshwar ChandarMDicverma@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nLiterature Cited\n\nProgressive Myoclonic Epilepsy Type 1Synonyms: EPM1, Unverricht-Lundborg Disease (ULD)LehesjokiAnna-ElinaMD, PhDFolkhälsan Research Center and University of HelsinkiHelsinki, Finlandanna-elina.lehesjoki@helsinki.fiKälviäinenReettaMD, PhDKuopio Epilepsy CenterKuopio University HospitalMember, EpiCARE ERNUniversity of Eastern FinlandKuopio, Finlandreetta.kalviainen@kuh.fi\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nProgressive Myoclonus Epilepsy, Lafora TypeSynonyms: Lafora Body Disease, Lafora Disease, Progressive Myoclonic Epilepsy Type 2 (EPM2)MinassianBergeMDUniversity of Texas SouthwesternDallas, Texasberge.minassian@utsouthwestern.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nProgressive Pseudorheumatoid DysplasiaSynonyms: Progressive Pseudorheumatoid Arthropathy of Childhood, Spondyloepiphyseal Dysplasia Tarda with Progressive ArthropathyBhavaniGandham SriLakshmiMSc, PhDgslbhavani2016@gmail.comAl RashdiSamiyaMScsamiya7@squ.edu.omShahHiteshMSHitesh.shah@manipal.eduShuklaAnjuMD, DManju.shukla@manipal.eduDalalAshwinMD, DMadalal@cdfd.org.inGirishaKatta MohanMD, DM, PhDg.kumar@squ.edu.om\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nProlidase DeficiencyRossignolFrancisMDfrancis.rossignol@nih.govWangHengMD, PhDwang@ddcclinic.orgFerreiraCarlosMDcarlos.ferreira@nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PROP1</italic>-Related Combined Pituitary Hormone DeficiencySynonym: PROP1-Related CPHDCarvalhoLuciani RenataMD, PhDluciani.carvalho@hc.fm.usp.brNishiMirian YumiePhDminishi@usp.brCorreaFernanda AzevedoMDfernandacorrea@usp.brMoreira MarquesJulianaPhDjulianamoreira@usp.brArnholdIvo Jorge PradoMDiarnhold@usp.brMendoncaBerenice BMDberemen@usp.br\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPropionic AcidemiaGalarreta AimaCarolina IMDcarolina.galarretaaima@nih.govShchelochkovOleg AMDoleg.shchelochkov@nih.govJerves SerranoTeodoroMDteodoro.jervesserrano@yale.eduVendittiCharles PMD, PhDvenditti@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nProteus SyndromeBieseckerLeslie GMDlesb@mail.nih.govSappJulie CScMsappj@mail.nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nProthrombin ThrombophiliaSynonym: Prothrombin G20210A ThrombophiliaKujovichJody LMDAssistant Professor of Pediatrics and Medicine, Department of Pediatric Hematology/Oncology\nOregon Health and Science University\nPortland, Oregonkujovich@ohsu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PRRT2</italic>-Related DisorderYangKathrynMD, FRCPCkathryn.yang@childrens.harvard.eduQuirozVincenteMDvicente.quiroz@childrens.harvard.eduEbrahimi-FakhariDariusMD, PhDdarius.ebrahimi-fakhari@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PRSS1</italic>-Related Hereditary PancreatitisWhitcombDavid CMD, PhDMedicine, Cell Biology & Physiology, and Human GeneticsUniversity of Pittsburgh & University of Pittsburgh Medical CenterPittsburgh, Pennsylvaniawhitcomb@pitt.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPseudohypoaldosteronism Type IISynonyms: Familial Hyperkalemic Hypertension, Gordon's Syndrome, PHAIIEllisonDavid HMDOregon Health & Science UniversityPortland, Oregonellisond@ohsu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nPseudoxanthoma ElasticumSynonym: PXETerrySharon FMAPXE InternationalWashington, DCsterry@pxe.orgUittoJouniMD, PhDThomas Jefferson UniversityPhiladelphia, Pennsylvaniajouni.uitto@jefferson.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PTDSS1</italic>-Related Lenz-Majewski Hyperostotic DysplasiaSynonyms: Lenz-Majewski Hyperostotic Dwarfism, Lenz-Majewski Hyperostotic Dysplasia, Lenz-Majewski SyndromeBuasriKochakornMDkochakorn.buasri@cchmc.orgSlavotinekAnnePhD, MBBSanne.slavotinek@cchmc.orgWattanasirichaigoonDuangrurdeeMDduangrurdee.wat@mahidol.ac.th\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PTEN</italic> Hamartoma Tumor SyndromeSynonym: PHTSYehiaLamisPhDGenomic Medicine InstituteCleveland ClinicCleveland, Ohioyehial@ccf.orgEngCharisMD, PhDGenomic Medicine InstituteCleveland Clinic;Department of Genetics & Genome SciencesCase Western Reserve University School of MedicineCleveland, Ohioengc@ccf.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PTH1R</italic>-Related Jansen Metaphyseal ChondrodysplasiaSynonyms: Jansen Disease; Jansen Metaphyseal Dysplasia; Murk Jansen Metaphyseal Chondrodysplasia; PTH1R-Related Metaphyseal Dysplasia, Jansen TypeObiezuFionaMDfiona.obiezu@nih.govBoyceAlisonMDalison.boyce@nih.govJüppnerHaraldMDhjueppner@mgh.harvard.eduJhaSmitaMDsmita.jha@nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PTS</italic>-Related Tetrahydrobiopterin Deficiency (PTPSD)Synonyms: 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency, PTS DeficiencyOpladenThomasMDCenter for Pediatric and Adolescent MedicineDepartment IDivision of Pediatric Neurology and Metabolic MedicineMedical Faculty HeidelbergHeidelberg UniversityHeidelberg, Germanythomas.opladen@med.uni-heidelberg.deLongoNicolaMD, PhDDivision of Clinical GeneticsDepartment of Human GeneticsUniversity of California Los AngelesLos Angeles, Californianlongo@mednet.ucla.eduBlauNenadPhDDivision of MetabolismUniversity Children's Hospital ZurichZurich, Switzerlandnenad.blau@kispi.uzh.ch\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPulmonary Fibrosis Predisposition OverviewGarciaChristine KimMD, PhDColumbia University Medical CenterNew York, New Yorkckg2116@cumc.columbia.eduTalbertJanet LMS, CGC, LGCVanderbilt University Medical CenterNashville, Tennesseejanet.talbert@vumc.org\n\nSummary\n\n Clinical Characteristics of Pulmonary Fibrosis\n\n Genetic Causes of Pulmonary Fibrosis\n\n Differential Diagnosis of Pulmonary Fibrosis\n\n Evaluation Strategies to Identify the Genetic Cause of Pulmonary Fibrosis in a Proband\n\n Management of Pulmonary Fibrosis\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">PURA-</italic>Related Neurodevelopmental DisordersSynonym: PURA-Related Developmental and Epileptic EncephalopathyReijndersMargot RFMD, PhDm.r.f.reijnders@erasmusmc.nlLeventerRichard JMBBS, BMedSci, PhD, FRACPrichard.leventer@rch.org.auLeeBo HoonMDbohoon_lee@urmc.rochester.eduBaralleDianaMBBS, MD, FRCPd.baralle@soton.ac.ukSelberPauloMD, SBOT, FRACSselberpoffice@hss.eduPaciorkowskiAlex RMD, FACMGalex_paciorkowski@urmc.rochester.eduSt JohnMiyaBSc, MAppLing, MspPath, PhDmiya.stjohn@mcri.edu.auMorganAngela TBSpPath (AudHons), PhDangela.morgan@mcri.edu.auAndersonMelBEdPGDipmel.anderson@purafoundation.auHildebrandMichael SPhDmichael.hildebrand@unimelb.edu.auSanchezL DengleMDlauren.sanchez@utsouthwestern.eduHuntDavidMBBS, PhD, MRCPdavid.hunt2@uhs.nhs.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPycnodysostosisSynonyms: Pyknodysostosis, Toulouse-Lautrec Syndrome, CTSK-Related PyknodysostosisLeBlancShannonMBBSshannon.leblanc@vcgs.org.auSavarirayanRaviMBBS, MD, FRACP, ARCPA (Hon)ravi.savarirayan@vcgs.org.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPyridoxine-Dependent Epilepsy – <italic toggle=\"yes\">ALDH7A1</italic>Synonyms: AASADH Deficiency, ALDH7A1 Deficiency, Alpha Aminoadipic Semialdehyde (α-AASA) Dehydrogenase Deficiency, Antiquitin (ATQ) Deficiency, PDE-ALDH7A1GospeSidney MJrMD, PhDsgospe@uw.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nPyruvate Carboxylase DeficiencyDuque LasioMaria LauraMDlduque@wustl.eduLehmanApril NMDapril.lehman2@nationwidechildrens.orgAhmadAyeshaMDayeshaah@med.umich.eduBedoyanJirair KMD, PhDjbedoyan@pitt.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nRAB18 DeficiencyHandleyMarkPhDm.handley@leeds.ac.ukSheridanEamonnMDe.sheridan@leeds.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">RAB32</italic>-Related Parkinson DiseaseSynonym: PARK-RAB32ChmielaTomaszMD, PhDchmiela.tomasz@mayo.edutchmiela@sum.edu.plWszolekZbigniew KMDwszolek.zbigniew@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">RERE</italic>-Related DisordersSynonym: Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart (NEDBEH)ScottDaryl AMD, PhDMolecular & Human Genetics, Molecular Physiology & Biophysics\nBaylor College of Medicine\nHouston, Texasdscott@bcm.eduSherrElliott HMD, PhDDepartments of Neurology & Pediatrics\nWeill Institute of Neuroscience & Institute of Human Genetics\nUniversity of California, San Francisco\nSan Francisco, Californiaelliott.sherr@ucsf.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nRetinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic ManifestationsSynonyms: Cerebroretinal Vasculopathy (CRV); Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke (HERNS); Hereditary Systemic Angiopathy (HSA); Hereditary Vascular Retinopathy (HVR); Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL); RVCL-Sde BoerIreneMDideboer@lumc.nlPelzerNadineMD, PhDn.pelzer@lumc.nlTerwindtGiselaMD, PhDg.m.terwindt@lumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nRetinoblastomaLohmannDietmar RMDProfessor, Eye Oncogenetics Research GroupInstitute of Human GeneticsUniversity Hospital EssenEssen, Germanydlohmann@me.comGallieBrenda LMDProfessor, University of TorontoRetinoblastoma ProgramHospital for Sick ChildrenToronto, Ontario, Canadabrenda@gallie.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">RFC1</italic> CANVAS / Spectrum DisorderCorteseAndreaMD, PhDandrea.cortese@ucl.ac.ukReillyMary MMB, Bch, BAO, MDm.reilly@ucl.ac.ukHouldenHenryMD, PhDh.houlden@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nRhabdoid Tumor Predisposition SyndromeSynonyms: Rhabdoid Predisposition Syndrome, RTPSNemesKarolinaMD, PhDkarolina.nemes@uk-augsburg.deBensSusanneMDsusanne.bens@uni-ulm.deBourdeautFranckMD, PhDfranck.bourdeaut@curie.frJohannPascalMDpascal.johann@uk-augsburg.deKordesUweMDkordes@uke.deSiebertReinerMD, Profreiner.siebert@uni-ulm.deFrühwaldMichael CMD, PhD, Profmichael.fruehwald@uk-augsburg.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nRiboflavin Transporter DeficiencyCaliElisaMDe.cali@ucl.ac.ukDominikNataliaBSc, MScn.dominik@ucl.ac.ukManoleAndreeaBSc, PhDandreea.manole.13@ucl.ac.ukHouldenHenryMD, PhDh.houlden@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nRitscher-Schinzel SyndromeSynonyms: 3C Syndrome, Cranio-Cerebello-Cardiac DysplasiaElliottAlison MPhD, MS, CGCUniversity of British ColumbiaVancouver, British Columbia, Canadaaelliott@bcchr.caChudleyAlbertMDUniversity of ManitobaWinnipeg, Manitoba, Canadaabchudley@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">RNU4-2</italic>–Related Autosomal Dominant Neurodevelopmental DisorderSynonym: ReNU SyndromeBarbosaMafaldaMD, PhD, FACMGDivision of Medical Genetics and GenomicsDepartment of Genetics and Genomic SciencesThe Mindich Child Health and Development InstituteIcahn School of Medicine at Mount SinaiNew York, New Yorkmafalda.barbosa@mssm.eduChopraMayaMBBS, FRACPRosamund Stone Zander Translational Neuroscience CenterBoston Children's HospitalBoston, Massachusettsmaya.chopra@childrens.harvard.eduTurroErnestPhDDepartment of Genetics and Genomic SciencesIcahn School of Medicine at Mount SinaiNew York, New Yorkernest.turro@mssm.eduValenzuela PalafollIreneMSc, MDClinical and Molecular Genetics AreaVall d'Hebron Hospital; Medicine Genetics GroupVall d'Hebron Research Institute (VHIR)Barcelona, Spainirene.valenzuela@vallhebron.cat\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nRNU4atac-opathySynonym: RNU4ATAC Spectrum DisorderDukerAngelaMSaduker@nemours.orgVelascoDanitaMDdvelasco@unmc.eduRobertsonNicMRCPCH, PhDnic.robertson@ed.ac.ukJacksonAndrewMRCP, PhDandrew.jackson@ed.ac.ukDeFeliceMageeMDmagee.defelice@nemours.orgBoberMichael BMD, PhDmbober@nemours.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">ROR2</italic>-Related Robinow SyndromeSynonym: Fetal Face SyndromeBacinoCarlos AMDDepartment of Molecular and Human Genetics\nBaylor College of Medicine\nHouston, Texascbacino@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nRothmund-Thomson SyndromeWangLisa LMDAssociate Professor, Division of Hematology/Oncology\nDepartment of Pediatrics\nTexas Children's Cancer Center\nTexas Children's Hospital\nBaylor College of Medicine\nHouston, Texasllwang@bcm.eduPlonSharon EMD, PhD, FACMGProfessor, Departments of Pediatrics and Molecular and Human Genetics\nTexas Children's Hospital\nBaylor College of Medicine\nHouston, Texassplon@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nRotor SyndromeSynonym: Rotor-Type HyperbilirubinemiaJirsaMilanMD, PhDInstitute for Clinical and Experimental MedicinePrague, Czech Republicmiji@ikem.czKniselyASMDZLP - Zentrum für Leber- und PankreaspathologieSt Pölten, Austriaasknisely@gmail.comSchinkelAlfredPhDNetherlands Cancer InstituteAmsterdam, the Netherlandsa.schinkel@nki.nlKmochStanislavPhDDepartment of Pediatrics and Inherited Metabolic DisordersCharles UniversityPrague, Czech Republicskmoch@lf1.cuni.cz\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">RPS6KA3</italic>-Related Intellectual DisabilityRogersR CurtisMDSenior Clinical GeneticistGreenwood Genetic CenterGreenville, South Carolinacrogers@ggc.orgAbidiFatima EPhD, MS, FACMGAssociate Director, Molecular Diagnostic LaboratoryGreenwood Genetic CenterGreenwood, South Carolinafatimaabidi@ggc.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">RRM2B</italic> Mitochondrial DNA Maintenance DefectsLimAlbert ZMBBS (Hons), MRCPCHalbert.lim@ncl.ac.ukMcFarlandRobertMA, MBBS, PhDrobert.mcfarland@ncl.ac.ukTaylorRobert WPhD, FRCPathrobert.taylor@ncl.ac.ukGormanGráinne SMB BCh, BAO (NUI), LRCP&SI (Hons), PhDgrainne.gorman@ncl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nRubinstein-Taybi SyndromeSynonym: Broad Thumb-Hallux SyndromeStevensCathy AMDDirector, Medical GeneticsProfessor, PediatricsUniversity of Tennessee College of MedicineChattanooga, Tennesseecathy.stevens@erlanger.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">RUNX1</italic> Familial Platelet Disorder with Associated Myeloid MalignanciesSynonyms: Familial Platelet Disorder / Acute Myeloid Leukemia (FPD/AML), RUNX1 Familial Platelet Disorder (FPD)DeuitchNatalieMS, CGCnatalie.deuitch@nih.govBroadbridgeElizabethBSliesl.broadbridge@nih.govCunninghamLeaMDlea.cunningham@nih.govLiuPaulMD, PhDpliu@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSaethre-Chotzen SyndromeSynonym: Acrocephalosyndactyly Type IIIGallagherEmily RMD, MPHChildren's Craniofacial Center\nSeattle Children's Hospital;\nDepartment of Pediatrics\nUniversity of WashingtonSeattle, Washingtonegalla@uw.eduRatisoontornChootimaDDS, PhDDepartment of Operative Dentistry\nChulalongkorn UniversityBangkok, ThailandCunninghamMichael LMD, PhDMedical Director, Children's Craniofacial Center\nSeattle Children's Hospital;\nDepartments of Pediatrics, Biological Structure, Pediatric Dentistry, and Oral Biology\nUniversity of Washington Schools of Medicine and DentistrySeattle, Washingtonmcunning@uw.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSalih MyopathyHackmanPeterPhDpeter.hackman@helsinki.fiSavareseMarcoPhDmarco.savarese@helsinki.fiDi FeoMaria FrancescaMDmariafrancesca.difeo@helsinki.fiUddBjarneMD, PhDbjarne.udd@pshp.fiSalihMustafa AMB BS, MPCH, MD, Dr Med Sci, FRCPCH, FAANmustafa_salih05@yahoo.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SALL1</italic>-Related Townes-Brocks SyndromeGrazianoClaudioMDU.O. Genetica MedicaAzienda USL della RomagnaRavenna, Italyclaudio.graziano2@auslromagna.itOlivucciGiuliaMDIRCCS Azienda Ospedaliero-Universitaria di BolognaBologna, Italygiulia.olivucci2@unibo.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SALL4</italic>-Related DisordersKohlhaseJürgenMDSYNLAB Center for Human Genetics\nFreiburg, Germanyjuergen.kohlhase@synlab.com\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SAMD9L</italic> Ataxia-Pancytopenia SyndromeSynonym: SAMD9L-ATXPC SyndromeRaskindWendy HMD, PhDwendyrun@uw.eduChenDong-HuiMD, PhDcdhui@uw.eduBirdThomasMDtomnroz@uw.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSandhoff DiseaseSynonym: Type II GM2 GangliosidosisXiaoChangruiMDchangrui.xiao@nih.govTifftCynthiaMD, PhDcynthiat@mail.nih.govToroCamiloMDtoroc@mail.nih.gov\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SATB2-</italic>Associated SyndromeSynonyms: 2q32 Deletion Syndrome, 2q33.1 Microdeletion Syndrome, Glass SyndromeZarateYuri AMDyuri.zarate@uky.eduBosankoKatherineMSkbbosanko@uams.eduFishJenniferPhDjennifer_fish@uml.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSaul-Wilson SyndromeSynonym: Microcephalic Osteodysplastic DysplasiaFerreiraCarlosMDMedical Genomics and Metabolic Genetics BranchNational Human Genome Research InstituteNational Institutes of HealthBethesda, Marylandcarlos.ferreira@nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SCARB2</italic>-Related Action Myoclonus – Renal Failure SyndromeXiaoChangruiMDchangrx@hs.uci.eduAhnHaejunMDhcahn@stanford.eduKibromSaraMDskibrom@stanford.eduToroCamiloMDtoroc@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSchaaf-Yang SyndromeSynonym: Chitayat-Hall SyndromeSchaafChristian PMD, PhDchristian.schaaf@med.uni-heidelberg.deMarbachFelixMDfelix.marbach@med.uni-heidelberg.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSchimke Immunoosseous DysplasiaSynonyms: SMARCAL1-Related Immuno-osseous Dysplasia (Schimke Type)LippnerElizabethMDelippner@luriechildrens.orgLückeThomasMD, PhDluecke.thomas@ruhr-uni-bochum.deSalgadoCarlosMDsalgado1@stanford.eduBoerkoelCorneliusMD, PhDcornelius.boerkoel@ubc.caLewisDavid BMDdblewis@stanford.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSchinzel-Giedion SyndromeDuisJessicaMD, MSChildren's Hospital Colorado;University of Colorado Anschutz Medical CampusAurora, Coloradojduis@sequencemd.comvan BonBregje WMMD, PhDDepartment of Human GeneticsRadboud University Medical CenterNijmegen, the Netherlandsbregje.vanbon@radboudumc.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSchmid Metaphyseal ChondrodysplasiaSynonyms: Metaphyseal Chondrodysplasia Type Schmid (MCDS); Metaphyseal Dysplasia Schmid (MCS), COL10A1-RelatedRichmondChristopher MarkBBiomedSc, MBBS, FRACPchris.richmond@health.qld.gov.auSavarirayanRaviMBBS, MD, FRACP, ARCPA (Hon)ravi.savarirayan@vcgs.org.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SCN1A</italic> Seizure DisordersMillerIan OMDMedical Director, Comprehensive Epilepsy ProgramNicklaus Children's HospitalMiami, Floridaian.miller@mchdocs.comSotero de MenezesMarcio AMDDirector, Genetic Epilepsy Clinic and TSC ClinicPediatric Neuroscience CenterSwedish Neuroscience InstituteSeattle, Washingtonmarcio.soterodemenezes@swedish.org\n\nSummary\n\nGeneReview Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SCN3A-</italic>Related Neurodevelopmental DisorderHelbigKatherine LMS, CGCThe Epilepsy Neurogenetics InitiativeDivision of NeurologyDepartment of PediatricsThe Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvaniahelbigk@email.chop.eduGoldbergEthan MMD, PhDThe Epilepsy Neurogenetics InitiativeDivision of NeurologyDepartment of PediatricsThe Children's Hospital of Philadelphia;Departments of Neurology and NeuroscienceThe University of Pennsylvania Perelman School of MedicinePhiladelphia, Pennsylvaniagoldberge@email.chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SCN8A</italic>-Related Epilepsy and/or Neurodevelopmental DisordersHammerMichael FPhDProfessor of NeurologyBIO5 InstituteUniversity of ArizonaTucson, Arizonamfh@email.arizona.eduXiaMayaBACOMBINEDBrainBrentwood, Tennesseemaya@combinedbrain.orgSchreiberJohn MMDChildren's National HospitalWashington, DCjschreib@childrensnational.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SCN9A</italic> Neuropathic Pain SyndromesHisamaFuki MMDDivision of Genetics\nDepartment of Medicine\nUniversity of Washington\nSeattle, Washingtonfmh2@uw.eduDib-HajjSulayman DPhDSenior Research Scientist, Center for Neuroscience and Regeneration Research\nDepartment of Neurology\nYale University School of Medicine\nNew Haven, Connecticutsulayman.dib-hajj@yale.eduWaxmanStephen GMD, PhDProfessor, Center for Neuroscience and Regeneration Research\nDepartment of Neurology\nYale University School of Medicine\nNew Haven, Connecticutstephen.waxman@yale.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nSepiapterin Reductase DeficiencySynonyms: Dopa-Responsive Hypersomnia, DYT-SPR, SPR DeficiencyFriedmanJenniferMDClinical Professor, Neurosciences and PediatricsRady Children’s Institute for Genomic MedicineUniversity of California San Diego / Rady Children’s Hospital San DiegoSan Diego, Californiajrfriedman@ucsd.eduGalosiSerenaMD, PhDDepartment of Human NeuroscienceSapienza UniversityRome, Italyserena.galosi@uniroma1.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSERAC1 DeficiencyWortmannSaskia BMD, PhDExpertise Centre for Inborn Metabolic DiseaseUniversity Children's HospitalParacelsus Private Medical UniversitySalzburg, Austrias.wortmann@salk.atde BrouwerArjan PMPhDDepartment of Human GeneticsRadboud University Nijmegen Medical CenterNijmegen, the Netherlandsarjan.debrouwer@radboudumc.nlWeversRon APhDTranslational Metabolic LaboratoryDepartment of Human GeneticsRadboud University Nijmegen Medical CenterNijmegen, the Netherlandsron.wevers@radboudumc.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSerine Deficiency DisordersSynonyms: Serine Biosynthesis Disorders, Serine Synthesis Disordersvan der CrabbenSaskia NMD, PhDs.n.vandercrabben@amsterdamumc.nlde KoningTom JMD, PhDtom.j_de_koning@med.lu.se\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SETBP1</italic> Haploinsufficiency DisorderSynonym: SETBP1 DisorderMorganAngelaPhDMurdoch Children’s Research InstituteUniversity of MelbourneRoyal Children’s HospitalMelbourne, Australiaangela.morgan@mcri.edu.auSrivastavaSiddharthMDDepartment of NeurologyBoston Children’s HospitalBoston, Massachusettssiddharth.srivastava@childrens.harvard.eduDuisJessicaMD, MSChildren's Hospital ColoradoUniversity of Colorado Anschutz Medical CampusAurora, Coloradojessica.duis@childrenscolorado.orgvan BonBregjeMD, PhDRadboud University Medical CenterNijmegen, the Netherlandsbregje.vanbon@radboudumc.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SETD1B</italic>-Related Neurodevelopmental DisorderRostonAlexandraMDDepartment of Medical GeneticsUniversity of British ColumbiaVancouver, British Columbiaalexandra.roston@phsa.caGibsonWilliamMD, PhDUBC Senior Clinician Scientist, Department of Medical GeneticsBC Children's Hospital Research InstituteVancouver, British Columbiawtgibson@bcchr.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SETD2</italic> Neurodevelopmental DisordersPappasJohnMD, MSAssociate Professor, Grossman School of MedicineNew York UniversityNew York, New Yorkjohn.pappas@nyulangone.orgRabinRachelMSGrossman School of MedicineNew York UniversityNew York, New Yorkrachel.rabin@nyulangone.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SGCE</italic> Myoclonus-DystoniaSynonyms: Dystonia 11 (DYT11), DYT-SGCERaymondDeborahMSdraymond@mountsinai.orgSaunders-PullmanRachelMD, MPHrachel.saunders-pullman@mountsinai.orgOzeliusLauriePhDlozelius@partners.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">SH3TC2</italic>-Related Hereditary Motor and Sensory NeuropathySynonyms: Charcot-Marie-Tooth Disease Type 4C, CMT4C, SH3TC2-HMSN, SH3TC2-Related Charcot-Marie-Tooth NeuropathyAzzedineHamidPhDInstitute of Pathology and Neuropathology\nAcademic Medical Center\nAmsterdam, the Netherlandsazzedine.hamid@yahoo.frSalihMustafa AMD, Dr Med Sci, FRCPCH, FAANDivision of Pediatric Neurology\nCollege of Medicine\nKing Saud University\nRiyadh, Saudi Arabia\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nShashi-Pena SyndromeSynonym: SHAPNSPorterJulie MMD, PhDjulie.lander@hsc.utah.eduPenaLoren DMMD, PhDloren.pena@alumni.duke.eduSpillmannRebecca CMS, CGCrebecca.crimian@duke.eduJohnsonAmandaamanda@arrefoundation.orgShashiVandanaMDvandana.shashi@duke.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nShort-Chain Acyl-CoA Dehydrogenase DeficiencySynonyms: SCADD, SCAD DeficiencyWolfeLynneMS, CRNP, BCNational Human Genome Research InstituteNational Institutes of HealthBethesda, Marylandlynne.wolfe@nih.govJethvaReenaMDHackensack University Medical CenterHackensack, New Jerseyreena.jethva@hmhn.orgOglesbeeDevinPhDMayo ClinicRochester, Minnesotaoglesbee.devin@mayo.eduVockleyJerryMD, PhDUniversity of PittsburghPittsburgh, Pennsylvaniagerard.vockley@chp.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSHOX Deficiency DisordersBinderGerhardMDPediatric EndocrinologyUniversity Children's HospitalTübingen, Germanygerhard.binder@med.uni-tuebingen.deRappoldGudrun APhDMolecular GeneticsUniversity of HeidelbergHeidelberg, Germanygudrun.rappold@med.uni-heidelberg.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nShprintzen-Goldberg SyndromeGreallyMarie TMD, MSc, FACMGConsultant Clinical Geneticist, Department of Clinical GeneticsOur Lady's Children's Hospital, CrumlinDublin, Irelandmarie.greally@yahoo.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nShwachman-Diamond SyndromeSynonym: Shwachman-Bodian-Diamond SyndromeNelsonAdamMBBSDirector, Bone Marrow Transplant and Cellular TherapyKids Cancer CentreSydney Children's HospitalSydney, Australiaadam.nelson@health.nsw.gov.auMyersKasianiMDAssociate Professor of Pediatrics, Division of Blood and Marrow Transplantation and Immune DeficiencyThe Cancer and Blood Diseases InstituteCincinnati Children's Hospital Medical CenterCincinnati, Ohiokasiani.myers@cchmc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSickle Cell DiseaseBenderMAMD, PhDmbender@fredhutch.orgCarlbergKatieMDkatie.carlberg@seattlechildrens.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSilver-Russell SyndromeSynonym: Russell-Silver SyndromeSaalHoward MMDDirector of Clinical Genetics, Division of Human GeneticsCincinnati Children's Hospital Medical Center;Professor of PediatricsUniversity of Cincinnati College of MedicineCincinnati, Ohiosaalhm@cchmc.orgHarbisonMadeleine DMDIcahn School of Medicine at Mount SinaiNew York, New Yorkmadeleine.harbison@mssm.eduNetchineIreneMD, PhDSorbonne Université, INSERM, UMR_S 938;Centre de Recherche Saint Antoine APHP, Hôpital Armand Trousseau;Explorations Fonctionnelles EndocriniennesParis, Franceirene.netchine@aphp.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSimpson-Golabi-Behmel Syndrome Type 1NisbetAlex FBSnisbeta@chop.eduHathawayEvan RMS, LCGChathawaye@chop.eduKalishJennifer MMD, PhDkalishj@chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSingle Large-Scale Mitochondrial DNA Deletion SyndromesSynonyms: mtDNA Deletion Syndromes, SLSMDSGoldsteinAmyMDgoldsteina@chop.eduFalkMarni JMDfalkm@chop.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSitosterolemiaSynonyms: Beta-Sitosterolemia, Phytosterolæmia, Phytosterolemia, SitosterolæmiaMyrieSemone BPhDmyrie@cc.umanitoba.caSteinerRobert DMDrdsteiner111@gmail.comMyminDavidMBBCh, FRCPdmymin@cc.umanitoba.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SLC12A5</italic>-Related Epilepsy of Infancy with Migrating Focal SeizuresSynonyms: Early-Infantile Epileptic Encephalopathy 34 (EIEE34), SLC12A5-EIMFSMcTagueAmyMBChBa.mctague@ucl.ac.ukKurianManju APhDmanju.kurian@ucl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SLC19A1</italic>-Related Folate Transport DeficiencyGoldmanI DavidMDDepartments of Medicine, Oncology and Molecular PharmacologyAlbert Einstein College of MedicineBronx, New Yorki.david.goldman@einsteinmed.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SLC25A19</italic>-Related Thiamine Metabolism DysfunctionSynonym: SLC25A19 DeficiencyTabarkiBrahimMDbtabarki@hotmail.comThabetFarahMDthabetfarah@yahoo.frAlfadhelMajidMD, FCCMGdralfadhelm@gmail.com\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SLC25A24</italic> Fontaine Progeroid SyndromeVelascoDanitaMD, FAAP, FACMGClinical Geneticist and Assistant Professor, Pediatrics and Munroe-Meyer Institute for Genetics & RehabilitationUniversity of Nebraska Medical CenterOmaha, Nebraskadvelasco@unmc.eduOlneyAnn HaskinsMD, FACMGClinical Geneticist and Professor, Pediatrics and Munroe-Meyer Institute for Genetics & RehabilitationUniversity of Nebraska Medical CenterOmaha, Nebraskaaolney@unmc.eduStarrLoisMD, PhD, FAAP, FACMGClinical Geneticist and Associate Professor, Pediatrics and Munroe-Meyer Institute for Genetics & RehabilitationUniversity of Nebraska Medical CenterOmaha, Nebraskalstarr@unmc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SLC26A2</italic>-Related AtelosteogenesisSuperti-FurgaAndreaMDProfessor of Pediatrics, Department of PediatricsLausanne University HospitalLausanne, Switzerlandasuperti@unil.chUngerSheilaMD, FRCPCDivision of Genetic MedicineUniversity of LausanneLausanne, Switzerlandsheila.unger@chuv.ch\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SLC26A2</italic>-Related Multiple Epiphyseal DysplasiaSynonym: SLC26A2-Related Recessive MED (SLC26A2-rMED)UngerSheilaMDAssociate Professor of GeneticsUniversity of Lausanne;Lausanne University HospitalLausanne, Switzerlandsheila.unger@chuv.chSuperti-FurgaAndreaMDProfessor of Pediatrics and GeneticsUniversity of Lausanne;Lausanne University HospitalLausanne, Switzerlandasuperti@unil.ch\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SLC26A4</italic>-Related Sensorineural Hearing LossSmithRichard JHMDSterba Hearing Research Professor of Otolaryngology;Director, Molecular Otolaryngology and Renal Research LaboratoriesDepartment of Otolaryngology – Head & Neck SurgeryCarver College of MedicineUniversity of IowaIowa City, Iowarichard-smith@uiowa.eduAzaiezHelaMS, PhDMolecular Otolaryngology and Renal Research LaboratoriesDepartment of Otolaryngology – Head & Neck SurgeryCarver College of MedicineUniversity of IowaIowa City, Iowahela-azaiez@uiowa.eduOdellAmanda MMS, LGCGenetic Counselor,Molecular Otolaryngology and Renal Research LaboratoriesDepartment of Otolaryngology – Head & Neck SurgeryCarver College of MedicineUniversity of IowaIowa City, Iowaamanda-odell@uiowa.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSLC39A14 DeficiencySynonyms: Hypermanganesemia with Dystonia 2 (HMNDYT2); SLC39A14-Related Early-Onset Dystonia-ParkinsonismTuschlKarinMD, PhDk.tuschl@ucl.ac.ukGregoryAllisonMS, CGCgregorya@ohsu.eduMeyerEstherPhDesther.meyer@nbt.nhs.ukClaytonPeter TMDpeter.clayton@ucl.ac.ukHayflickSusan JMDhayflick@ohsu.eduMillsPhilippa BPhDp.mills@ucl.ac.ukKurianManju APhDmanju.kurian@ucl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSLC39A8-CDGSynonyms: CDG-IIn, Congenital Disorder of Glycosylation Type IIn (CDG2N), SLC39A8 DeficiencyParkJulien HDr. med.Klinik für Kinder- und Jugendmedizin – Allgemeine PädiatrieUniversitätsklinikum Münster (UKM)julien.park@ukmuenster.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SLC6A1</italic>-Related Neurodevelopmental DisorderSynonyms: SLC6A1-Related Disorder, SLC6A1 Deficiency DisorderGoodspeedKimberlyMD, MSCSkimberly.goodspeed@utsouthwestern.eduDemarestScottMD, MSCSscott.demarest@childrenscolorado.orgJohannesenKatrineMD, PhDkatrine.johannesen@regionh.dkKangJingqiongPhDjingqiong.kang@vumc.orgLalDennisPhDlald@ccf.orgAngioneKatieMSkaitlin.angione@childrenscolorado.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SLC6A3</italic>-Related Dopamine Transporter Deficiency SyndromeSynonym: DAT DeficiencySpaullRobert VVMA, MBBSr.spaull@ucl.ac.ukKurianManju AMA, MBBChir, PhDmanju.kurian@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SMARCA2-</italic>Related Nicolaides-Baraitser SyndromeSynonym: NCBRSAbdul-RahmanOmarMDDepartment of PediatricsWeill Cornell MedicineNew York, NYoma4009@med.cornell.eduMayFrancisMDMemorial Sloan Kettering Cancer Center;NewYork-Presbyterian/Weill Cornell Medical CenterNew York, NYfjm4001@nyp.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSmith-Kingsmore SyndromePradaCarlos EMDcprada@luriechildrens.orgRaskiCarolyn RMScraski@luriechildrens.orgMirzaaGhaydaMDghayda.mirzaa@seattlechildrens.orgBestermanAaronMDabesterman@ucsd.eduKruegerDarcy AMD, PhDkrueger_darcy@cchmc.orgLiuAndrew CPhDandrew.liu@ufl.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSmith-Lemli-Opitz SyndromeSynonym: SLOSNowaczykMalgorzata JMMD, MFA, FRCPC, FCCMG, FACMGProfessor, Molecular Medicine & Pathology and PediatricsPediatrician and Clinical GeneticistMcMaster UniversityHamilton, Canadanowaczyk@hhsc.caWassifChristopher APhDStaff Scientist, Section of Molecular DysmorphologyNICHDBethesda, Marylandwassifc@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSmith-Magenis SyndromeSynonym: del(17)(p11.2)SmithAnn CMMA, DSc (hon), CGCacmsmith@mail.nih.govBerensJohnMD, FAAP, FACPjohn.berens@bcm.eduBoydKerry EMD, FRCP(C)kboyd@mcmaster.caBrennanChristinePhD, CCC-SLPchristine.brennan@colorado.eduGropmanAndreaMD, FAAP, FACMG, FANA, FAAN, FCNSandrea.gropman@stjude.orgHaas-GivlerBarbaraMEd, BCBAbahaasgivler@geisinger.eduVlangosChristopherPhD, FACMGchris.vlangos@tempus.comFosterRebeccaPhDrebecca.foster@bjc.orgFranciskovichRachelMS, CGCrwills@bcm.eduGirirajanSanthoshMBBS, PhDsxg47@psu.eduRaitano LeeNancyPhDnrl39@drexel.eduTaylorCoraPhDcmtaylor1@geisinger.eduTurnaciogluSinan OmerMDsturnaci@childrensnational.orgElseaSarah HPhD, FACMGelsea@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSnyder-Robinson SyndromeSynonym: Spermine Synthase DeficiencySchwartzCharles EPhDcharles.schwartz224@gmail.comBuppCalebMDcaleb.bupp@corewellhealth.orgKutlerMary JoDOmaryjo.kutler@snyder-robinson.orgPeronAngelaMD, PhDangela.peron@unifi.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SOST</italic>-Related Sclerosing Bone DysplasiasAppelman-DijkstraNatashaMD, PhDn.m.appelman-dijkstra@lumc.nlVan LieropAntoonMD, PhDavlierop@flevoziekenhuis.nlPapapoulosSocratesMD, PhDs.e.papapoulos@lumc.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSotos SyndromeOcanseySharonMBBS, BSc, MScSpecialist Registrar in Clinical GeneticsSt George's University Hospital NHS Foundation TrustLondon, United Kingdomsharon.ocansey@stgeorges.nhs.ukColeTrevor RPMB ChBConsultant and Honorary Reader in Clinical GeneticsClinical Genetics UnitBirmingham Women's HospitalBirmingham, United Kingdomtrevor.cole@bham-womens.thenhs.comRahmanNazneenBM BCh, PhDProfessor and Honorary Consultant in Medical GeneticsCancer Genetics Section Institute of Cancer ResearchLondon, United Kingdomnazneen.rahman@icr.ac.ukTatton-BrownKatrinaBM BCh, MDConsultant in Clinical GeneticsSouth West Thames Regional Genetics Service;Professor in Clinical Genetics and Genomic EducationSt George's University of LondonLondon, United Kingdomktattonbrown@nhs.net\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SOX2</italic> DisorderWilliamsonKathleen APhDkathy.williamson@igmm.ed.ac.ukYatesT MichaelMBChB, MRCP (Edin)michael.yates@igmm.ed.ac.ukFitzPatrickDavid RMD, FMedScidavid.fitzpatrick@ed.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpastic Paraplegia 11StevaninGiovanniPhDInstitut du Cerveau et de la Moelle EpinièreINSERM, CNRSSorbonne University;École Pratique des Hautes ÉtudesParis Sciences et Lettres Research UniversityHôpital Pitié-SalpêtrièreParis, Francegiovanni.stevanin@upmc.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpastic Paraplegia 15Synonyms: Hereditary Spastic Paraplegia Type 15, HSP-ZFYVE26, SPG15, ZFYVE26-Related Hereditary Spastic ParaplegiaEbrahimi-FakhariDariusMD, PhDdarius.ebrahimi-fakhari@childrens.harvard.eduAlecuJulian Ejulian.alecu@childrens.harvard.eduBlackstoneCraigMD, PhDcblackstone@mgh.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpastic Paraplegia 3ASynonyms: ATL1-HSP, SPG3AHederaPeterMD, PhDDepartment of NeurologyUniversity of LouisvilleLouisville, Kentuckyphederabna@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpastic Paraplegia 4Synonyms: SPAST-HSP, SPG4ParodiLiviaPhDlivia.parodi@icm-institute.orgRydningSiri LynneMDs.l.rydning@medisin.uio.noTallaksenChantalMD, PhDchantal.tallaksen@medisin.uio.noDurrAlexandraMD, PhDalexandra.durr@icm-institute.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpastic Paraplegia 8Synonym: SPG8MeijerInge AMD, PhDCHU Sainte-Justine\nUniversité de Montréal\nMontreal, Quebec, Canadainge.meijer@umontreal.caValdmanisPaul NPhDDivision of Medical Genetics\nDepartment of Medicine\nUniversity of Washington\nSeattle, Washingtonpaulnv@uw.eduRouleauGuy AMD, PhDMontreal Neurological Hospital and Institute\nMcGill University\nMontreal, Quebec, Canadaguy.rouleau@mcgill.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SPG7</italic>-Related Neurologic DisorderHederaPeterMD, PhD, FACMGDepartment of NeurologyUniversity of Louisville, Louisville, Kentuckypeter.hedera@louisville.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSphingosine Phosphate Lyase Insufficiency SyndromeSynonyms: Familial Steroid-Resistant Nephrotic Syndrome with Adrenal Insufficiency; NPHS14; Renal, Endocrine, Neurological, and Immune (RENI) Syndrome; SGPL1 Deficiency; Steroid-Resistant Nephrotic Syndrome Type 14WeaverKathryn NicoleMDkathryn.weaver@cchmc.orgSullivanBonnieMDbrsullivan@cmh.eduHildebrandtFriedhelmMDfriedhelm.hildebrandt@childrens.harvard.eduStroberJonathanMDjonathan.strober@ucsf.eduPrasadRathiMBBS, PhDrathi.prasad1@nhs.netSabaJulieMD, PhDjulie.saba@ucsf.eduSamuelMaryiaBSc, MScmaryia.samuel@ucsf.eduHegeleRobertMD, FRCPChegele@robarts.caMcIntyreAdamBScamcintyre@robarts.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinal and Bulbar Muscular AtrophySynonyms: Kennedy's Disease, SBMA, X-Linked Spinal and Bulbar Muscular AtrophyLa SpadaAlbertMD, PhDUniversity of California Irvine School of MedicineIrvine, Californiaalaspada@hs.uci.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinal Muscular AtrophyPriorThomas WPhD, FACMGthomas.prior@uhhospitals.orgLeachMeganne EMSN, PNPleachm@ohsu.eduFinangerErika LMDfinanger@ohsu.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinal Muscular Atrophy, X-Linked InfantileSynonyms: SMAX2, XL-SMABaumbach-ReardonLisaPhD, FACMGAssociate Professor, Dr Kiran C Patel College of MedicineTampa Bay CampusClearwater, Floridalreardon@nova.eduHunterJMPhD, FACMGClinical Lab Director, Institute for Genomic MedicineNationwide Children's HospitalColumbus, Ohiojeshnt@gmail.comAhearnMary EllenMSResearch Operations Manager, Translational Genomics Research InstitutePhoenix, Arizonameahearn@tgen.orgPfautschMirandaDO candidateDr Kiran C Patel College of MedicineTampa Bay CampusClearwater, Floridamp2771@mynsu.nova.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 10Synonym: SCA10MatsuuraTohruMDDivision of NeurologyDepartment of Internal MedicineJichi Medical UniversityTochigi, Japantohrum@jichi.ac.jpAshizawaTetsuoMDDirector, Neuroscience Research ProgramHouston Methodist Research InstituteHouston, Texastashizawa@houstonmethodist.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 11Synonym: SCA11ChenZhongboMA, BM BCh, MRCPzhongbo.chen@ucl.ac.ukPuzriakovaArinaBSc, MScarina.puzriakova.18@ucl.ac.ukHouldenHenryMD, PhDh.houlden@ucl.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nSpinocerebellar Ataxia Type 13Synonym: SCA13WatersMichael FMD, PhDProfessor of Neurology\nBarrow Neurological Institute\nPhoenix, Arizonamichael.waters@dignityhealth.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 14Synonym: SCA14ChenDong-HuiMD, PhDDepartment of Neurology\nUniversity of Washington Medical Center\nSeattle, Washingtoncdhui@uw.eduBirdThomas DMDDepartments of Neurology and Medicine\nUniversity of Washington;\nSeattle VA Medical Center\nSeattle, Washingtontomnroz@uw.eduRaskindWendy HMD, PhDProfessor, Departments of Medicine and Psychiatry and Behavioral Sciences\nUniversity of Washington Medical Center\nSeattle, Washingtonwendyrun@uw.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 17Synonyms: Huntington Disease-Like 4, SCA17ToyoshimaYasukoMD, PhDDepartment of NeurologyBrain Disease CenterAgano HospitalAgano, Japantoyoshima@agano.or.jpOnoderaOsamuMD, PhDProfessor, Department of NeurologyBrain Research InstituteNiigata UniversityNiigata, Japanonodera@bri.niigata-u.ac.jpYamadaMitsunoriMD, PhDProfessor, Division of NeuropathologyDepartment of Brain Disease ResearchShinshu University School of MedicineMatsumoto, Japannori@shinshu-u.ac.jpTsujiShojiMD, PhDProfessor, Department of NeurologyUniversity of Tokyo Graduate School of MedicineTokyo, Japantsuji@m.u-tokyo.ac.jpTakahashiHitoshiMD, PhDExecutive Vice-President for ResearchNiigata UniversityNiigata, Japanhitoshi@bri.niigata-u.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 1Synonym: SCA1OpalPuneetMD, PhDDirector, Ataxia ClinicDepartment of NeurologyNorthwestern Feinberg School of MedicineChicago, Illinoisp-opal@northwestern.eduAshizawaTetsuoMDDirector, Neuroscience Research ProgramHouston Methodist Research InstituteHouston, Texastashizawa@houstonmethodist.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 20Synonym: SCA20StoreyElsdonDPhil, FRACPDirector, Van Cleef Roet Centre for Nervous DiseasesHead, Department of NeuroscienceDepartment of Medicine (Neuroscience)Monash University (Alfred Hospital Campus)Neurologist to Neurogenetics ClinicsAlfred, Saint Vincent's, and Royal Melbourne HospitalsMelbourne, Victoria, Australiaelsdon.storey@med.monash.edu.auGardnerRJMMB ChB, FCCMGClinical Genetics GroupUniversity of OtagoDunedin, New Zealandmacgardner@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 2Synonym: SCA2PulstStefan MMDDepartment of Neurology\nUniversity of Utah\nSalt Lake City, Utahstefan.pulst@hsc.utah.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nSpinocerebellar Ataxia Type 37Synonyms: SCA37Matilla-DueñasAntoniBSc, MSc, PhDNeurogenetics UnitNeuroscience DepartmentGermans Trias i Pujol Research Institute (IGTP)Badalona, Spainamatilla@igtp.catVolpiniVictorMD, PhDMolecular Genetics CenterBellvitge Biomedical Research Institute (IDIBELL)L'Hospitalet de LlobregatBarcelona, Spainvvolpini@idibell.cat\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 38BruscoAlfredoPhDAssociate Professor in Medical Genetics, Department of Medical SciencesUniversity of TurinTurin, Italyalfredo.brusco@unito.itDi GregorioEleonoraPhDBiologist, Città della Salute e della Scienza University HospitalTurin, Italyele.digregorio@gmail.comBorroniBarbaraMDAssociate Professor of Neurology, Neurology UnitDepartment of Clinical and Experimental SciencesUniversity of BresciaBrescia, Italybarbara.borroni@unibs.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 3Synonyms: Machado-Joseph Disease, SCA3PaulsonHenryMD, PhDProfessor, Department of NeurologyUniversity of Michigan Medical SchoolAnn Arbor, Michiganhenryp@umich.eduShakkottaiVikramMD, PhDAssociate Professor, Departments of Neurology and of Molecular and Integrative PhysiologyUniversity of Michigan Medical SchoolAnn Arbor, Michiganvikramsh@med.umich.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 4Synonyms: SCA4, Spinocerebellar Ataxia 4PuschmannAndreasMD, PhDandreas.puschmann@med.lu.seDoblougSigurdMDsigurd.dobloug@med.lu.seWalleniusJoelMScjoel.wallenius@skane.seWictorinKlasMD, PhDklas.wictorin@skane.seGorcencoSorinaMD, PhDsorina.gorcenco@med.lu.se\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia Type 6Synonym: SCA6CaseyHannah LBShannahcasey@neurology.bsd.uchicago.eduGomezChristopher MMD, PhDcgomez@neurology.bsd.uchicago.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nSpinocerebellar Ataxia Type 7Synonym: SCA7La SpadaAlbert RMD, PhDDistinguished Professor and Vice Chair, Departments of Pathology & Laboratory Medicine and Neurology\nDirector, UCI Institute for Neurotherapeutics\nUniversity of California Irvine School of Medicine\nIrvine, Californiaalaspada@uci.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nSpinocerebellar Ataxia Type 8Synonym: SCA8ClearyJohn DouglasPhDCenter for NeuroGeneticsDepartment of Molecular Genetics & MicrobiologyCollege of MedicineUniversity of FloridaGainesville, Floridajohn.cleary@ufl.eduSubramonySHMDDepartment of NeurologyUniversity of FloridaGainesville, Floridas.subramony@neurology.ufl.eduRanumLaura PWPhDCenter for NeuroGeneticsDepartment of Molecular Genetics & MicrobiologyDepartment of NeurologyGenetics InstituteCollege of MedicineUniversity of FloridaGainesville, Floridaranum@ufl.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpinocerebellar Ataxia with Axonal Neuropathy Type 1Synonym: SCAN1, TDP1-Related Spinocerebellar Ataxia with Axonal NeuropathySalihMustafa AMMD, Dr Med Sci, FRCPCHDivision of Pediatric NeurologyCollege of MedicineKing Saud UniversityRiyadh, Saudi Arabiamustafa_salih05@yahoo.comTakashimaHiroshiMD, PhDDepartment of Neurology and GeriatricsKagoshima University Graduate School of Medical and Dental SciencesKagoshima, Japanthiroshi@m3.kufm.kagoshima-u.ac.jpBoerkoelCornelius FMD, PhDProvincial Medical Genetics ProgramChild and Family Research InstituteDepartment of Medical GeneticsUniversity of British ColumbiaVancouver, Canadaboerkoel@interchange.ubc.cacornelius.boerkoel@ubc.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpondylocostal Dysostosis, Autosomal RecessiveSynonyms: Costovertebral Dysplasia, Spondylocostal DysplasiaTurnpennyPeter DBSc, MB, ChB, FRCP, FRCPCH, FRCPathpeter.turnpenny@nhs.netSlomanMelissaBSc, DipRCPathmelissa.sloman@nhs.netDunwoodieSallyBSc, PhDs.dunwoodie@victorchang.edu.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSpondylometaphyseal Dysplasia, Corner Fracture TypeSynonym: Spondylometaphyseal Dysplasia SutcliffeEnglandJadeMD, MScjade.england@umontreal.caCampeauPhilippe MMDp.campeau@umontreal.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SPTBN4</italic> DisorderSynonym: Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness (NEDHND)Ortiz-GonzalezXilmaMD, PhDChildren's Hospital of PhiladelphiaPhiladelphia, Pennsylvaniaortizgonzalez@chop.eduWierengaKlaasMDMayo Clinic FloridaJacksonville, Floridawierenga.klaas@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SPTLC1</italic>-Related Hereditary Sensory NeuropathySynonyms: Hereditary Sensory and Autonomic Neuropathy Type IA, Hereditary Sensory Neuropathy Type IA, HSAN1A, HSN1ANicholsonGarth AMBBS, PhDDepartment of Medicine\nUniversity of Sydney\nHereditary Neuropathies Clinic and Molecular Medicine Laboratory\nConcord Hospital\nSydney, Australiagarth.nicholson@sydney.edu.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSqualene Synthase DeficiencyComanDavidMBBS, MPhil, FRACPDepartment of Metabolic MedicineQueensland Children’s HospitalBrisbane, Australiadavid.coman@health.qld.gov.auVissersLisenkaPhDDepartment of Human GeneticsDonders Institute for Brain, Cognition and BehaviorRadboud University Medical CenterNijmegen, the Netherlandslisenka.vissers@radboudumc.nlWaterhamHansPhDLaboratory Genetic Metabolic DiseasesAcademic Medical CenterUniversity of AmsterdamAmsterdam, the Netherlandsh.r.waterham@amc.uva.nlChristodoulouJohnMBBS, PhDDirector, Genetics Research ThemeMurdoch Children’s Research InstituteChair of Genomic Medicine, Department of PaediatricsUniversity of MelbourneMelbourne, Australiajohn.christodoulou@mcri.edu.auWeversRon APhDTranslational Metabolic LaboratoryDepartment of Laboratory MedicineRadboud University Medical CenterNijmegen, the Netherlandsron.wevers@radboudumc.nlPittJamesPhDVictorian Clinical Genetics ServicesMurdoch Children's Research InstituteMelbourne, Australiajames.pitt@vcgs.org.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SRCAP-</italic>Related Floating-Harbor SyndromeNowaczykMalgorzata JMMD, FRCPC, FCCMG, FACMGDepartment of Pathology and Molecular MedicineMcMaster UniversityHamilton, Ontario, Canadanowaczyk@hhsc.caNikkelSarah MMD, FRCPC, FCCMGDepartment of Medical GeneticsBC Women's and Children's HospitalVancouver, British Columbia, Canadasarah.nikkel@cw.bc.caWhiteSusan MMD, FRACPVictorian Clinical Genetics ServiceMurdoch Children's Research InstituteRoyal Children's HospitalVictoria, Australiasue.white@vcgs.org.au\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">STAC3</italic> DisorderSynonym: Native American MyopathyWebbBryn DMDbryn.webb@mssm.eduManoliIriniMD, PhDmanolii@mail.nih.govJabsEthylin WangMDethylin.jabs@mssm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">STAT3</italic> Hyper IgE SyndromeSynonyms: Job Syndrome, STAT3-Deficient Hyper-IgE Syndrome, STAT3 Deficiency, STAT3-HIES, STAT3 Loss-of-Function Hyper-IgE Syndrome (STAT3 LOF HIES)HsuAmy PBAtwins@niaid.nih.govDavisJoiePNP-BC, APNGjdavis@niaid.nih.govPuckJennifer MMDpuckj@peds.ucsf.eduHollandSteven MMDsholland@niaid.nih.govFreemanAlexandra FMDfreemaal@niaid.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nStickler SyndromeSynonym: ArthroophthalmopathyMortierGeertMD, PhDCenter for Human GeneticsUniversity Hospitals LeuvenLeuven, Belgiumgeert.mortier@uzleuven.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">STRC</italic>-Related Autosomal Recessive Hearing LossSynonym: STRC-Related Sensorineural Hearing LossRedfieldShelbyMS, CGCshelby.redfield@childrens.harvard.eduShearerA EliotMD, PhDeliot.shearer@childrens.harvard.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nStrømme SyndromeSynonyms: Apple Peel Syndrome with Microcephaly and Ocular Anomalies, Jejunal Atresia with Microcephaly and Ocular AnomaliesHoStephanie KLMDstephanie_kl_ho@dh.gov.hkLeungLai TingMDmo_cg1@dh.gov.hkLukHo-mingMDlukhm@ha.org.hkLoIvan FMMDcon_cg@dh.gov.hk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">STXBP1</italic> Encephalopathy with EpilepsySynonyms: Early-Infantile Epileptic Encephalopathy 4 (EIEE4), STXBP1 Epileptic Encephalopathy, STXBP1-Related Developmental and Epileptic Encephalopathy (STXBP1-DEE)Mercimek-AndrewsSaadetMD, PhD, FCCMG, FRCPCDepartment of Medical GeneticsFaculty of Medicine and DentistryUniversity of AlbertaAlberta Health ServicesEdmonton, Alberta, Canadasaadet@ualberta.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSuccinic Semialdehyde Dehydrogenase DeficiencySynonyms: 4-Hydroxybutyric Aciduria, Gamma-Hydroxybutyric Aciduria, SSADH DeficiencyTokatly LatzerItayMDitay.tokatlylatzer@childrens.harvard.eduPearlPhillip LMDphillip.pearl@childrens.harvard.eduRoulletJean-BaptistePhDj.roullet@wsu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SUCLA2</italic>-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic AciduriaSynonym: SUCLA2 DeficiencyEl-HattabAyman WMD, FAAP, FACMGProfessor, Department of Clinical SciencesCollege of MedicineUniversity of SharjahSharjah, United Arab Emirateselhattabaw@yahoo.comScagliaFernandoMD, FAAP, FACMGProfessor, Department of Molecular and Human GeneticsBaylor College of MedicineHouston, Texasfscaglia@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SUCLG1</italic>-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic AciduriaSynonyms: SUCLG1 Deficiency, SUCLG1-Related Succinyl-CoA Ligase DeficiencyEl-HattabAyman WMD, FAAP, FACMGAssociate Professor, Department of Clinical SciencesCollege of MedicineUniversity of SharjahSharjah, United Arab Emirateselhattabaw@yahoo.comScagliaFernandoMD, FAAP, FACMGDepartment of Molecular and Human GeneticsBaylor College of MedicineHouston, Texasfscaglia@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">SYNCRIP</italic>-Related Neurodevelopmental DisorderSynonym: HNRNPQ-Related Neurodevelopmental DisorderBalasubramanianMeenaMBBS, DCH, FRCPCH, MD, FHEAProfessor of Medical Genetics, Division of Clinical Medicine, University of Sheffield;Honorary Consultant Clinical Geneticist, Sheffield Clinical Genomics Service;Director of Research, Sheffield Children's NHS Foundation TrustSheffield, United Kingdomem.balasubramanian@sheffield.ac.ukBainJennifer MMD, PhD, FCNSAssociate Professor of Neurology and PediatricsColumbia University Irving Medical CenterNew York, New Yorkjb3634@cumc.columbia.eduGillentineMadelyn APhDScientific Director, HNRNP Family Foundation;Clinical Genomics Scientist, Baylor GeneticsHouston, Texasmaddie@hnrnp.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nSYNE1 DeficiencyBeaudinMarieMDmarie.beaudin.1@ulaval.caGamachePierre-LucMD, PhDpierre-luc.gamache.1@ulaval.caGros-LouisFrançoisPhDfrancois.gros-louis@fmed.ulaval.caDupréNicolasMD, MScnicolas.dupre.cha@ssss.gouv.qc.ca\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\n<italic toggle=\"yes\">SYNGAP1</italic>-Related Intellectual DisabilitySynonym: SYNGAP1-Related Developmental and Epileptic EncephalopathyHolderJ LloydJrMD, PhDholder@bcm.eduHamdanFadi FPhDfadi.hamdan@recherche-ste-justine.qc.caMichaudJacques LMDjacques.michaud@recherche-ste-justine.qc.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TAF8</italic>-Related Neurodevelopmental DisorderSynonym: TAF8 DeficiencyFalik ZaccaiTzipora CMDfalikmd.genetics@gmail.comtzipora.falik-zaccai@biu.ac.ilMesikaAvivavivmaskia@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTangier DiseaseSynonyms: Analphalipoproteinemia, Familial High-Density Lipoprotein Deficiency 1, Primary Hypoalphalipoproteinemia 1BurnettJohn RMB ChB, MD, PhD, FRCPAjohn.burnett@health.wa.gov.auHooperAmanda JPhDamanda.hooper@health.wa.gov.auMcCormickSally PAPhDsally.mccormick@otago.ac.nzHegeleRobert AMD, FRCPC, FACPhegele@robarts.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nTANGO2 DeficiencySynonyms: TANGO2 Deficiency Disorder, TANGO2-Related Metabolic Encephalopathy and ArrhythmiasMiyakeChristina YMD, MScymiyake@bcm.eduBurrageLindsayMD, PhDburrage@bcm.eduGlintonKevinMD, PhDKevin.Glinton@bcm.eduHouckKimberlyMDkmhouck@texaschildrens.orgHoyos-MartinezAlfonsoMDaxhoyosm@texaschildrens.orgGrahamBrettMD, PhDbregraha@iu.eduYangYapingPhDyapingy@ailifeus.comRawls-CastilloBrandyMS, RD, LDblrawls@texaschildrens.orgScagliaFernandoMDfscaglia@bcm.eduSoler-AlfonsoClaudiaMDsoler@bcm.eduLalaniSeema RMDseemal@bcm.tmc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TARDBP</italic>-Related Amyotrophic Lateral Sclerosis-Frontotemporal DementiaSynonyms: TARDBP-ALS-FTD, TDP-43 Proteinopathy, TDP-43-Linked ALS-FTDManoharVaishnaviMTechvaishnavi.1.manohar@kcl.ac.ukCrowleyLeonMScleon.crowley@kcl.ac.ukSreedharanJemeenBSc, MBBS, MRCP, PhDjemeen.sreedharan@kcl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTatton-Brown-Rahman SyndromeSynonym: DNMT3A Overgrowth SyndromeOstrowskiPhilip JMDSpecialist Registrar in Clinical Genetics, St George's University Hospitals NHS Foundation Trust;Great Ormond Street Hospital for Children NHS Foundation TrustLondon, United Kingdomphil.ostrowski@nhs.netTatton-BrownKatrinaMDConsultant Clinical Geneticist, St George's University Hospitals NHS Foundation Trust;Professor of Clinical Genetics and Genomic Medicine, St George's University of LondonLondon, United Kingdomk.tattonbrown@nhs.net\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TBC1D24</italic>-Related DisordersBalestriniSimonaMD, PhDsimona.balestrini@meyer.itCampeauPhilippe MMDp.campeau@umontreal.caMeiDavideMScdavide.mei@meyer.itGuerriniRenzoMD, FRCPrenzo.guerrini@meyer.itSisodiyaSanjayMD, PhD, FRCPs.sisodiya@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TBCK</italic>-Related Neurodevelopmental DisorderSynonyms: Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF3), TBCK Encephaloneuronopathy, TBCK SyndromeOrtiz-GonzalezXilmaMD, PhDortizgonzalez@chop.eduDubbsHollyMS, LCGCdubbsh@chop.eduKellerKierstinMS, LCGCkellerk@chop.eduDurhamEmilyPhDdurhame@chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TCIRG1</italic>-Related OsteopetrosisJodehWadeMDwade.jodeh@utoledo.eduAlamImranulPhDialam@iu.eduEconsMichaelMDmecons@iu.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TECPR2</italic>-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual DisabilitySynonyms: Hereditary Sensory and Autonomic Neuropathy Type IX with Developmental Delay (HSAN9), Hereditary Spastic Paraplegia Type 49 (SPG49)HeimerGaliMD, PhDgalih.md@gmail.comNeuserSonjaMDsonja.neuser@medizin.uni-leipzig.deBen-ZeevBruriaMDbruria.benzeev@sheba.health.gov.ilbruria.benzeev@gmail.comEbrahimi-FakhariDariusMD, PhDdarius.ebrahimi-fakhari@childrens.harvard.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TEK</italic>-Related Venous MalformationsSerontEmmanuelMD, PhDInstitut Roi Albert IIDepartment of Medical OncologyCliniques universitaires Saint-LucUniversité catholique de LouvainBrussels, Belgiumemmanuel.seront@saintluc.uclouvain.beBoonLaurence MMD, PhDCenter for Vascular AnomaliesDivision of Plastic SurgeryCliniques universitaires Saint-LucUniversité catholique de LouvainBrussels, Belgiumlaurence.boon@saintluc.uclouvain.beVikkulaMiikkaMD, PhDHuman Molecular Geneticsde Duve InstituteUniversité catholique de LouvainBrussels, Belgiummiikka.vikkula@uclouvain.be\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTemple SyndromeSynonym: TS14GazdaghGabriellaMD, PGCert, FRCPCHgabriella.gazdagh@uhs.nhs.ukJuriaansAliciaMD, PhDa.f.juriaans@soton.ac.ukKerkhofGertheMD, PhDg.kerkhof@erasmusmc.nlDaviesJustin HMBBCh, MRCP, FRCPCH, MDjustin.davies@uhs.nhs.ukTempleKaren IMB ChB, MD, FRCPi.k.temple@soton.ac.ukMackayDeborah JGMA, PhDd.j.g.mackay@soton.ac.ukOgawaTomoeMDyamaguchi-t@ncchd.go.jpOgataTsutomuMD, PhDtomogata@hama-med.ac.jpKagamiMasayoMD, PhDkagami-ms@ncchd.go.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TET3</italic>-Related Beck-Fahrner SyndromeSynonyms: TET3-BEFAHRS, TET3 DeficiencyFahrnerJill AMD, PhDDepartment of Genetic MedicineDepartment of PediatricsJohns Hopkins School of MedicineBaltimore, Marylandjfahrne1@jhmi.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TFR2</italic>-Related HemochromatosisDe GobbiMarcoMD, PhDProfessor of Internal MedicineDepartment of Clinical and Biological SciencesUniversity of Torino;Azienda Ospedaliera San LuigiOrbassano, Turin, Italymarco.degobbi@unito.itRoettoAntonellaPhDAssistant Professor in Medical GeneticsDepartment of Clinical and Biological SciencesUniversity of Torino;Azienda Ospedaliera San LuigiOrbassano. Turin, Italyantonella.roetto@unito.it\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nThanatophoric DysplasiaFrenchTeganBMBSVictorian Clinical Genetics ServicesMurdoch Children's Research InstituteRoyal Children's HospitalMelbourne, Australiategan.french@vcgs.org.auSavarirayanRaviMBBS, MD, FRACP, ARCPA (Hon)Victorian Clinical Genetics ServicesMurdoch Children's Research InstituteRoyal Children's Hospital;University of MelbourneMelbourne, Australiaravi.savarirayan@vcgs.org.au\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nThiamine-Responsive Megaloblastic Anemia SyndromeSynonyms: Rogers Syndrome, TRMASakoShuheiMDTsunogaiToshikiMDOishiKimihikoMDkimihiko.oishi@jikei.ac.jp\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">THOC6</italic> Intellectual Disability SyndromeSynonym: Beaulieu-Boycott-Innes SyndromeLemireGabrielleMD, FRCPCChildren's Hospital of Eastern Ontario Research InstituteUniversity of OttawaOttawa, Canadaglemire@cheo.on.caInnesA MicheilMD, FRCPCDepartment of Medical GeneticsAlberta Children's Hospital Research InstituteUniversity of CalgaryCalgary, Canadamicheil.innes@albertahealthservices.caBoycottKym MMD, PhD, FRCPCDepartment of GeneticsChildren's Hospital of Eastern OntarioUniversity of OttawaOttawa, Canadakboycott@cheo.on.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nThrombocytopenia Absent Radius SyndromeSynonym: TAR SyndromePetitFlorenceMD, PhDflorence.petit@chu-lille.frBoussionSimonMDsimon.boussion@chu-lille.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TK2</italic>-Related Mitochondrial DNA Maintenance Defect, Myopathic FormSynonyms: Mitochondrial DNA Depletion Syndrome 2 (MTDPS2), Myopathic Type; TK2 DeficiencyWangJuliaBSjulia.wang@bcm.eduEl-HattabAyman WMD, FAAP, FACMGelhattabaw@yahoo.comWongLee-Jun CPhD, FACMGljwong@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTNF Receptor-Associated Periodic Fever SyndromeSynonyms: TNF Receptor-Associated Periodic Syndrome (TRAPS), Tumor Necrosis Factor Receptor-Associated Periodic SyndromeDeuitchNatalieMS, CGCnatalie.deuitch@nih.govCudriciCorneliaMDcornelia.cudrici@nih.govOmbrelloAmandaMDamanda.ombrello@nih.govAksentijevichIvonaMD, FACMGaksentii@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TNXB</italic>-Related Classical-Like Ehlers-Danlos SyndromeSynonyms: Classical-Like Ehlers-Danlos syndrome (clEDS) Type 1, TNXB-Related clEDS, TNXB-Related Classic-Like Ehlers-Danlos Syndromevan DijkFleur SMD, PhDfleur.dijk@nhs.netGhaliNeetiMBChB, MDneeti.ghali@nhs.netDemirdasSerwetMD, PhDs.demirdas@erasmusmc.nlBakerDuncanMSc\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TP63</italic>-Related DisordersSuttonV ReidMDProfessor, Department of Molecular and Human Genetics\nBaylor College of Medicine;\nTexas Children's Hospital\nHouston, Texasvrsutton@texaschildrens.orgvan BokhovenHansPhDProfessor, Molecular Neurogenetics\nDepartment of Human Genetics\nRadboud University Medical Center\nNijmegen, the Netherlandshans.vanbokhoven@radboudumc.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TPK1</italic>-Related Thiamine Metabolism Dysfunction SyndromeSynonyms: Thiamine Metabolism Dysfunction Syndrome 5 (TMDS5), Thiamine Pyrophosphokinase Deficiency, TPK1 DeficiencyMascarenhasSelindaMScmascarenhasselinda@gmail.comPaulMaimuna SaliPhDmaimuna.paul@manipal.eduBhatVivekanandaDNB, DMbhat.vivekananda@manipal.eduShuklaAnjuMD, DManju.shukla@manipal.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTreacher Collins SyndromeSynonyms: Mandibulofacial Dysostosis, Treacher Collins-Franceschetti SyndromeBarbosaMafaldaMD, PhD, FACMGDepartment of Genetics and Genomic SciencesIcahn School of Medicine at Mount SinaiNew York, New Yorkmafalda.barbosa@mssm.eduJabsEthylin WangMDDepartment of Clinical GenomicsMayo Clinic, Rochester, Minnesotajabs.ethylin@mayo.eduHustonSaraMSDepartment of PediatricsFeinberg School of MedicineNorthwestern University;Lurie Children’s HospitalChicago, Illinoisshuston@luriechildrens.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTrichohepatoenteric SyndromeSynonyms: Phenotypic Diarrhea of Infancy, Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome (SD/THE), THESFabreAlexandreMD, PhDalexandre.fabre@ap-hm.frBourgeoisPatricePhDpatrice.bourgeois@ap-hm.frChaixCharlènecharlene.chaix@ap-hm.frBertauxKarinePhDkarine.bertaux@ap-hm.frGouletOlivierMD, PhDolivier.goulet@aphp.frBadensCatherinePharmD, PhDcatherine.badens@ap-hm.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTrichorhinophalangeal SyndromeSynonym: Tricho-Rhino-Phalangeal Syndrome (TRPS)TüysüzBeyhanMD, PhDbeyhan@istanbul.edu.trGüneşNilayMDnilay.gunes@istanbul.edu.trAlkayaDilek UludağMD, PhDduludagalkaya@istanbul.edu.tr\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TRIO</italic>-Related Neurodevelopmental DisorderVarvagiannisKonstantinosMDkonstantinosv@cing.ac.cyknsvarv@ath.forthnet.grVissersLisenka ELMPhDlisenka.vissers@radboudumc.nlBaralleDianaBSc, MBBS, MD, FRCPd.baralle@soton.ac.ukde VriesBert BAMD, PhDbert.devries@radboudumc.nlGazdaghGabriellaMD, MRCPCHgabriella.gazdagh@uhs.nhs.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTRMU DeficiencySynonyms: TRMU-Related Reversible Infantile Respiratory Chain Deficiency, TRMU-Related Mitochondrial Hepatopathy, TRMU-Related Reversible Infantile Liver FailureReinhartMichaelaMDreinhartmb@chop.eduMurareskuColleenMS, LCGCclarkec@chop.eduGanetzkyRebeccaMDganetzkyr@chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTroyer SyndromeSynonyms: SPART-Related Hereditary Spastic Paraplegia (SPART-HSP); SPG20BapleEmmaMBBS, MRCPCH, PhDe.baple@exeter.ac.ukDayJacobMRCP, BM BCh, BAJ.Day8@exeter.ac.ukNewmanAllisonMScian545@exeter.ac.ukCrosbyAndrewPhDa.h.crosby@exeter.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TRPM3</italic>-Related Neurodevelopmental DisorderDymentDavidDPhil, MD, FRCPCddyment@cheo.on.caLinesMatthewMSc, MD, FRCPCmatthew.lines@albertahealthservices.caInnesA MicheilMD, FRCPCmicheil.innes@albertahealthservices.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TSEN54</italic> Pontocerebellar Hypoplasiavan DijkTessaMDt.van_dijk@lumc.nlBaasFrankMD, PhDf.baas@lumc.nl\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TUBB4A</italic>-Related Neurologic DisordersGavazziFrancescoMD, PhDgavazzif@chop.eduPizzinoAmyMSpizzinoa@chop.eduBallyJulien FMDjulien.bally@chuv.chFraserJamieMD, PhDjfraser@childrensnational.orgSimonsCasPhDc.simons@imb.uq.edu.auWolfNicole IMD, PhDn.wolf@amsterdamumc.nlvan der KnaapMarjoMD, PhDms.vanderknaap@vumc.nlVanderverAdelineMDvandervera@email.chop.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTuberous Sclerosis ComplexSynonym: Bourneville DiseaseNorthrupHopeMD, FACMGhope.northrup@uth.tmc.eduKoenigMary KayMDmary.k.koenig@uth.tmc.eduPearsonDeborah APhDdeborah.a.pearson@uth.tmc.eduAuKit SingPhDkit-sing.au@uth.tmc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTubulinopathies OverviewBahi-BuissonNadiaMD, PhDnadia.bahi-buisson@aphp.frMaillardCamillePhD\n\nSummary\n\n Clinical Characteristics of Tubulinopathies\n\n Genetic Causes of Tubulinopathies\n\n Differential Diagnosis of Tubulinopathies\n\n Evaluation Strategies to Identify the Genetic Cause of Tubulinopathy in a Proband\n\n General Medical Management of Tubulinopathies\n\n Genetic Counseling of Family Members of an Individual with a Tubulinopathy\n\nResources\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">TXNL4A</italic>-Related Craniofacial DisordersLüdeckeHermann-JosefPhDhermann-josef.luedecke@uni-duesseldorf.deWieczorekDagmarMDdagmar.wieczorek@uni-duesseldorf.dedagmar.wieczorek@hhu.de\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nType II Collagen Disorders OverviewGregersenPernille AxélMD, PhDDepartment of Clinical Genetics;Centre for Rare Diseases;Pediatrics and Adolescent MedicineAarhus University HospitalAarhus, Denmarkperngreg@rm.dkSavarirayanRaviMBBS, MD, FRACP, ARCPA (Hon)Victorian Clinical Genetics Service;Murdoch Children's Research Institute;University of Melbourne, ParkvilleMelbourne, Australiaravi.savarirayan@vcgs.org.au\n\nSummary\n\n Clinical Characteristics of Type II Collagen Disorders\n\n Evaluation Strategies to Identify the Genetic Cause of a Type II Collagen Disorder in a Proband\n\n Differential Diagnosis of Type II Collagen Disorders\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nTyrosine Hydroxylase DeficiencyFurukawaYoshiakiMD, PhDVice-President, Juntendo Tokyo Koto Geriatric Medical CenterProfessor, Department of Neurology, Juntendo University Graduate School of MedicineTokyo, Japanfurukawa@juntendo.gmc.ac.jpKishStephenPhDProfessor, Departments of Psychiatry and PharmacologyUniversity of TorontoHead, Human Brain LaboratoryResearch Imaging CentreCentre for Addiction and Mental HealthToronto, Ontario, Canadastephen.kish@camh.ca\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTyrosinemia Type IISynonyms: Oculocutaneous Tyrosinemia, Richner-Hanhart Syndrome, TAT Deficiency, Tyrosine Aminotransferase DeficiencyBayzaeiZahraPhDz.beyzaei@gmail.comDehghaniSeyed MohsenMD, MPHdehghanism@gmail.comGeramizadehBitaMD, APCPgeramib@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nTyrosinemia Type ISynonyms: FAH Deficiency, Fumarylacetoacetase Deficiency, Fumarylacetoacetate Hydrolase Deficiency, Hepatorenal Tyrosinemia Type 1 (HT-1)FiciciogluCanMD, PhDThe Children's Hospital of Philadelphia;Division of Human Genetics and MetabolismPerelman School of Medicine at the University of PennsylvaniaPhiladelphia, Pennsylvaniaficicioglu@chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nUdd Distal Myopathy – Tibial Muscular DystrophySynonym: Udd MyopathyUddBjarneMD, PhD, Profbjarne.udd@netikka.fiHackmanPeterPhD, Docpeter.hackman@helsinki.fi\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nUNC80 DeficiencyBramswigNuria CMDCentre of Medical GeneticsDepartment of Medical GeneticsUniversity of Münster and University Hospital MünsterMünster, Germanynuria.braemswig@ukmuenster.deZakiMaha SMD, PhDProfessor of Clinical GeneticsNational Research CentreCairo, Egyptdr_mahazaki@yahoo.comdr.mahazaki@nrc.nci.eg\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nUncomplicated (Pure) Hereditary Spastic Paraplegia OverviewSynonyms: Strumpell-Lorrain Syndrome, Uncomplicated Hereditary Spastic ParaparesisHederaPeterMD, PhD, FACMGDepartment of NeurologyUniversity of LouisvilleLouisville, Kentuckypeter.hedera@louisville.edu\n\nSummary\n\n Clinical Characteristics of Uncomplicated Hereditary Spastic Paraplegia\n\n Causes of Uncomplicated Hereditary Spastic Paraplegia\n\n Differential Diagnosis of Uncomplicated Hereditary Spastic Paraplegia\n\n Evaluation Strategies to Identify the Genetic Cause of Uncomplicated Hereditary Spastic Paraplegia in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nUrea Cycle Disorders OverviewSimpsonKara LMS, CGCksimpson@childrensnational.orgMacLeodErin LPhD, RDemacleod@childrensnational.orgKakajiwalaAadilMDakakajiwal@childrensnational.orgGropmanAndrea LMDmailto:agropman@childrensnational.organdrea.gropman@stjude.orgAh MewNicholasMDnahmew@childrensnational.org\n\nSummary\n\n Clinical Characteristics of Urea Cycle Disorders\n\n Genetic Causes of Urea Cycle Disorders\n\n Differential Diagnosis of Urea Cycle Disorders\n\n Evaluation Strategies to Identify the Genetic Cause of a Urea Cycle Disorder in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nUrofacial SyndromeSynonym: Ochoa SyndromeNewmanWilliam GMA, PhD, FRCPwilliam.newman@manchester.ac.ukWoolfAdrian SMA, MDadrian.woolf@manchester.ac.ukBeamanGlenda MPhDglenda.beaman@manchester.ac.ukRobertsNeil APhDneil.roberts-2@manchester.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nUsher Syndrome Type IISynonym: USH2KoenekoopRobertMD, PhD, FARVOPediatric Surgery, Human Genetics and Adult OphthalmologyMcGill University Health CenterMontreal, Quebec, Canadarobert.koenekoop@mcgill.caArriagaMoisesMD, MBA, FACSOtolaryngology and NeurosurgeryLouisiana State University Health Sciences CenterNew Orleans, Louisianamaa@neurotologic.comTrzupekKarmen MMS, CGCOcular & Rare Disease Genetics ServicesInformed DNASt Petersburg, Floridaktrzupek@informeddna.comLentzJenniferPhDNeuroscience Center of ExcellenceLouisiana State University HealthSciences CenterNew Orleans, Louisianajlentz@lsuhsc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nUsher Syndrome Type ISynonyms: Usher Syndrome Type 1, USH1, USH Type 1KoenekoopRobert KMD, PhD, FACSPediatric Surgery, Human Genetics, and Adult OphthalmologyMcGill University Health CenterMontreal, Quebec, Canadarobert.koenekoop@mcgill.caArriagaMoises AMD, MBA, FACSOtolaryngology and NeurosurgeryLouisiana State University Health Sciences CenterNew Orleans, Louisianamaa@neurotologic.comGilliesNickyMSHuman Development CenterLouisiana State University Health Sciences CenterNew Orleans, Louisianangilli@lsuhsc.eduTrzupekKarmen MMS, CGCOcular & Rare Disease Genetics ServicesInformedDNASt Petersburg, Floridaktrzupek@informeddna.comLentzJennifer JPhDNeuroscience Center of ExcellenceLouisiana State University Health Sciences CenterNew Orleans, Louisianajlentz@lsuhsc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">USP7</italic>-Related Hao-Fountain SyndromeSynonym: USP7-Related Neurodevelopmental DisorderSchaafChristianMD, PhDMedical Director and Chairman, Institute of Human GeneticsHeidelberg UniversityHeidelberg, Germanychristian.schaaf@med.uni-heidelberg.deSailerSebastianMDInstitute of Human GeneticsHeidelberg UniversityHeidelberg, Germanysebastian.sailer@med.uni-heidelberg.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nVariegate PorphyriaSynonym: Porphyria VariegataSingalAshwani KMD, MScUniversity of South Dakota Sanford School of Medicine\nSioux Falls, South Dakotaaksingal@uab.eduAndersonKarl EMDUniversity of Texas Medical Branch\nGalveston, Texaskanderso@utmb.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nVascular Ehlers-Danlos SyndromeSynonyms: EDS Type IV; Ehlers-Danlos Syndrome, Vascular Type; vEDSByersPeter HMDDepartment of Laboratory Medicine and Pathology;Department of Medicine, Division of Medical GeneticsUniversity of WashingtonSeattle, Washingtonpbyers@uw.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">VCAN</italic>-Related VitreoretinopathyRothschildPierre-RaphaelMD, PhDInstitut Parisien d’ophjtalmologie et Groupe PauchetParis, Francepierreraphaelrothschild@hotmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nVery Long-Chain Acyl-Coenzyme A Dehydrogenase DeficiencySynonyms: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, VLCAD DeficiencyLeslieNancy DMDProfessor of Clinical PediatricsDivision of Human GeneticsCincinnati Children's Hospital Medical CenterCincinnati, Ohionancy.leslie@cchmc.orgSaenz-AyalaSofiaMDCincinnati Children's Hospital Medical CenterCincinnati, Ohio\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nVEXAS SyndromeSynonym: Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic SyndromeHadjadjJeromeMD, PhDjerome.hadjadj@nyulangone.orgBeckDavidMD, PhDdavid.beck@nyulangone.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">VLDLR</italic> Cerebellar HypoplasiaSynonym: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)BoycottKym MPhD, MDDepartment of GeneticsChildren's Hospital of Eastern OntarioProfessor of PediatricsUniversity of OttawaOttawa, Ontario, Canadakboycott@cheo.on.caMacDonaldStella KBScClinical Research Associate, Department of GeneticsChildren's Hospital of Eastern OntarioOttawa, Ontario, Canadasmacdonald@cheo.on.caParboosinghJillian SPhDMolecular Diagnostic LaboratoryAlberta Children's HospitalAssociate Professor of Medical GeneticsUniversity of CalgaryCalgary, Alberta, Canadajillian.parboosingh@albertaprecisionlabs.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nVon Hippel-Lindau SyndromeSynonyms: VHL Disease, VHL Syndrome, Von Hippel-Lindau Diseasevan LeeuwaardeRachel SMD, PhDr.vanLeeuwaarde@umcutrecht.nlAhmadSayaBScvan NesselrooijBernadetteMD, PhDb.p.m.vannesselrooij@umcutrecht.nlZandeeWouterMD, PhDw.zandee@umcg.nlGilesRachel HPhDrachelhelengiles@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nVon Willebrand DiseaseSynonym: Von Willebrand Factor DeficiencyJohnsenJillMDDivision of Hematology and Oncology, Department of Medicine;Institute for Stem Cell & Regenerative Medicine;Center for Cardiovascular BiologyUniversity of WashingtonSeattle, Washingtonjjohnsen@uw.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">VPS13A</italic> DiseaseSynonyms: Chorea-Acanthocytosis (ChAc), ChoreoacanthocytosisPeikertKevinMDkevin.peikert@med.uni-rostock.deDobson-StoneCarolDPhilcarol.dobson-stone@sydney.edu.auRampoldiLucaPhDrampoldi.luca@hsr.itMiltenberger-MiltenyiGabrielMDgmiltenyi@medicina.ulisboa.ptNeimanAaronPhDaaron.neiman@stonybrook.eduDe CamilliPietroPhDpietro.decamilli@yale.eduHermannAndreasMD, PhDandreas.hermann@med.uni-rostock.deWalkerRuth HMB, ChB, PhDruth.walker@mssm.eduMonacoAnthony PMD, PhDanthony.monaco@tufts.eduDanekAdrianMDdanek@lmu.de\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">VPS13D</italic> Movement DisorderSynonyms: Spinocerebellar Ataxia, Recessive, Type 4 (SCAR4); Spinocerebellar Ataxia with Saccadic Intrusion (SCASI); VPS13D Hyperkinetic Movement DisorderMeijerInge AMD, PhDCHU Sainte-JustineUniversité de MontréalMontréal, Québec, Canadainge.meijer@umontreal.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">VPS35</italic>-Related Parkinson DiseaseSynonyms: PARK17, PARK-VPS35DulskiJaroslawMD, PhDdulski.jaroslaw@mayo.eduRossOwen APhDross.owen@mayo.eduWszolekZbigniew KMDwszolek.zbigniew@mayo.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nWaardenburg Syndrome Type IMilunskyJeff MarkMDDirector, Clinical GeneticsSenior Director, Molecular GeneticsCo-Director, Center for Human Genetics, IncCambridge, Massachusettsjmilunsky@chginc.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">WAC</italic>-Related Intellectual DisabilityVarvagiannisKonstantinosMDknsvarv@ath.forthnet.grde VriesBert BAMD, PhDbert.devries@radboudumc.nlVissersLisenka ELMPhDlisenka.vissers@radboudumc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nWAGR Spectrum DisorderSynonyms: WAGR Complex, WAGRO Syndrome, WAGR SyndromeGeorgeAndrew MBSgeorgeam@chop.eduKatzZoeMS, LCGCkatzz1@chop.eduHathawayEvan RMS, LCGChathawaye@chop.eduAdamsSylvie ABAadamss9@chop.eduBerlantZacharyMDberlantz@chop.eduDukiBamelak TesfayeBAdukib@chop.eduViswanathanAravindBAviswanatha@chop.eduTroutKelly LBSN, RNkelly.trout@wagr.orgMacFarlandSuzanne PMDmacfarlands@chop.eduKalishJennifer MMD, PhDkalishj@chop.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nWARS2 DeficiencyMroczekMagdalenaMDm.mroczek888@gmail.comBusraAynekinPhDbusraynekin@gmail.comHouldenHenryMD, PhDh.houlden@ucl.ac.ukEfthymiouStephanieMSc, PhDs.efthymiou@ucl.ac.ukNagySaraMD, MScs.nagy@ucl.ac.uk\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">WAS</italic>-Related DisordersChandraSharatMDAssociate Professor, Division of Bone Marrow Transplantation and Immune DeficiencyCincinnati Children's Hospital Medical Center;University of Cincinnati College of MedicineCincinnati, Ohiosharat.chandra@cchmc.orgNagarajChinmayee BMSGenetic Counselor, Division of Human GeneticsCincinnati Children's Hospital Medical CenterCincinnati, Ohiochinmayee.bhimarao@cchmc.orgSunMiaoPhDAssociate Professor of Clinical PathologyDivision of Genomic MedicineDepartment of Pathology and Laboratory MedicineChildren's Hospital Los Angeles;Keck School of Medicine of USCLos Angeles, Californiamiaosun@chla.usc.eduChandrakasanShanmuganathanMDAssociate Professor and DirectorImmune dysregulation / Immunohematology and Immune Defects Transplant ProgramsAflac Cancer and Blood Disorders CenterChildren's Healthcare of Atlanta;Emory University School of MedicineAtlanta, Georgiaschan31@emory.eduZhangKejianMD, MBAProfessor and DirectorMolecular Genetics LaboratoryDivision of Diagnostic Genetics and GenomicsDepartment of Pathology and Clinical LaboratoriesMichigan MedicineUniversity of MichiganAnn Arbor, Michigankejian.zhang2017@gmail.comkejian@med.umich.edu\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">WDR26</italic>-Related Intellectual DisabilitySkrabanCara MMDskrabanc@email.chop.eduGrandKatheryn LMSgrandk@email.chop.eduDeardorffMatthew AMD, PhDmdeardorff@chla.usc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">WDR62</italic> Primary MicrocephalySynonyms: Autosomal Recessive Primary Microcephaly 2 With or Without Cortical Malformations, MCPH2VerloesAlainMD, PhDalain.verloes@aphp.frRuaudLyseMD, PhDlyse.ruaud@aphp.frDrunatSéverinePharmD, PhDseverine.drunat@aphp.frPassemardSandrineMD, PhDsandrine.passemard@aphp.fr\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nWeill-Marchesani SyndromeMarzinPaulineMDpauline.marzin@aphp.frCormier-DaireValérieMD, PhDvalerie.cormier-daire@inserm.frTsilouEkateriniMDekaterini.tsilou@fda.hhs.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nWeiss-Kruszka SyndromeSynonym: ZNF462 DisorderKruszkaPaulMD, MPHNational Human Genome Research Institute\nNational Institutes of Health\nBethesda, Marylandpaul.kruszka@nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nWerner SyndromeOshimaJunkoMD, PhDDepartment of PathologyUniversity of WashingtonSeattle, Washingtonpicard@uw.eduHisamaFuki MMDDivision of Medical Genetics, Department of PediatricsUniversity of California Irvine,Orange, Californiafhisama@hs.uci.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">WFS1</italic> Spectrum DisorderBarrettTimothyMB BS, PhDProfessor of Pædiatrics, Institute of Cancer and Genomic SciencesUniversity of BirminghamBirmingham, United Kingdomt.g.barrett@bham.ac.ukTranebjærgLisbethMD, PhDProfessor of Medical Genetics and Genetic Audiology, Department of Clinical GeneticsUniversity Hospital / Kennedy Center;Institute of Clinical MedicinePanum InstituteUniversity of CopenhagenCopenhagen, Denmarktranebjaerg@sund.ku.dklisbeth.tranebjaerg@regionh.dkGuptaRajatMDDepartment of NeurologyBirmingham Women's and Children's HospitalBirmingham, United Kingdomrajatgupta@nhs.netMcCarthyLiamMDDepartment of UrologyBirmingham Women's and Children's HospitalBirmingham, United Kingdomliammccarthy@nhs.netRendtorffNanna DahlPhDDepartment of Clinical GeneticsUniversity Hospital / Kennedy CenterCopenhagen, Denmarknanna.dahl.rendtorff@regionh.dkWilliamsDeniseMDDepartment of Medical GeneticsBirmingham Women's and Children's HospitalBirmingham, United Kingdomdenise.williams21@nhs.netWrightBenjaminMDDepartment of NeurologyUniversity Hospitals BirminghamBirmingham, United Kingdombenjamin.wright@uhb.nhs.ukDiasRenukaPhDDepartment of EndocrinologyBirmingham Women's and Children's HospitalBirmingham, United Kingdomr.dias1@nhs.net\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nWhite-Sutton SyndromeSynonym: POGZ-Related Intellectual Disability SyndromeAssia BatzirNuritMDPediatric Genetics ClinicSchneider Children's Medical Center of IsraelPetah Tikva, Israelnurita3@clalit.org.ilWhiteJansonPhDInvitae CorporationSan Francisco, Californiajanson.white@invitae.comSuttonV ReidMDProfessor, Molecular & Human GeneticsBaylor College of Medicine;Texas Children's HospitalHouston, Texasvrsutton@texaschildrens.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nWiedemann-Steiner SyndromeSynonym: KMT2A-Related Neurodevelopmental DisorderSheppardSarah EMD, PhDUnit on Vascular MalformationsDivision of Intramural ResearchEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentBethesda, Marylandsarah.sheppard@nih.govQuintero-RiveraFabiolaMDDivision of Genetic and Genomic MedicineDepartments of Pathology, Laboratory Medicine, and PediatricsSchool of MedicineUniversity of California, Irvine;UC Irvine HealthOrange, Californiafabiolaq@hs.uci.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nWilliams SyndromeSynonym: Williams-Beuren SyndromeMorrisColleen AMD, FACMG, FAAPcolleen.morris@unlv.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nWilms Tumor PredispositionTurnerJoyce TMSjturner@childrensnational.orgBrzezinskiJackMD, PhDjack.brzezinski@sickkids.caDomeJeffrey SMD, PhDjdome@childrensnational.org\n\nSummary\n\n Clinical Characteristics of Wilms Tumor\n\n Mechanisms of Predisposition to Wilms Tumor\n\n Evaluation Strategy to Identify the Genetic Cause of Wilms Tumor in a Proband\n\n Management\n\n Genetic Counseling\n\nResources\n\nChapter Notes\n\nReferences\n\nWilson DiseaseSynonym: Hepatolenticular DegenerationWeissKarl HeinzMDInternal MedicineSalem Medical CenterHeidelberg, Germanykarlheinz.weiss@stadtmission-hd.deSchilskyMichaelMDYale University School of MedicineNew Haven, Connecticutmichael.schilsky@yale.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nWoodhouse-Sakati SyndromeSynonym: Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, and Extrapyramidal SyndromeBohlegaSaeed AMD, FRCPC, FAANProfessor and Consultant, Department of Neurosciences\nKing Faisal Specialist Hospital and Research Center\nRiyadh, Saudi Arabiaboholega@kfshrc.edu.saAbusrairAliMDNeurologist, Department of Neurosciences\nKing Faisal Specialist Hospital and Research Center\nRiyadh, Saudi Arabiaaabusrair@moh.gov.sa\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">WT1</italic> DisorderLipska-ZiętkiewiczBeata SMD, PhDCentre for Rare DiseasesClinical Genetics UnitDepartment of Biology and GeneticsMedical University of GdańskGdańsk, Polandb.lipska@gumed.edu.pl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nXeroderma PigmentosumKraemerKenneth HMDkraemerk@nih.govDiGiovannaJohn JMDjdigiova@mail.nih.govTamuraDeborahRNtamurad@mail.nih.gov\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nXia-Gibbs SyndromeChanderVarunaMSvaruna.chander@bcm.eduWanglerMichaelMDmw147467@bcm.eduGibbsRichardPhDagibbs@bcm.eduMurdockDavidMDdmurdock@gmail.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nX-Linked AcrogigantismSynonyms: Chromosome Xq26.3 Duplication Syndrome, X-LAG, XLAGIacovazzoDonatoMDd.iacovazzo@qmul.ac.ukKorbonitsMártaMD, PhDm.korbonits@qmul.ac.uk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nX-Linked AdrenoleukodystrophySynonym: X-ALDRaymondGerald VMDgraymon4@jhmi.eduMoserAnn BBAmosera@kennedykrieger.orgFatemiAliMDfatemi@kennedykrieger.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nX-Linked AgammaglobulinemiaSynonyms: Bruton's Agammaglobulinemia, BTK Deficiency, XLASmithCI EdvardMD, PhDKarolinska InstitutetStockholm, Swedenedvard.smith@ki.seBerglöfAnnaVMD, PhDKarolinska InstitutetStockholm, Swedenanna.berglof@ki.se\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nX-Linked Congenital RetinoschisisSynonym: X-Linked RetinoschisisSievingPaul AMD, PhDProfessor of OphthalmologyDirector of the Center for Ocular Regenerative Therapy (CORT)University of California, DavisSacramento, Californiapasieving@ucdavis.eduMacDonaldIan MMD, CMProfessor, Department of Ophthalmology and Visual SciencesUniversity of AlbertaRoyal Alexandra HospitalEdmonton, Alberta, Canadamacdonal@ualberta.caHoangStephanieMScGenetic Counselor, Department of Medical GeneticsUniversity of Alberta HospitalEdmonton, Alberta, Canadastephanie.hoang@albertahealthservices.ca\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nX-Linked Congenital Stationary Night BlindnessSynonym: X-Linked CSNBMacDonaldIan MMD, CMDepartments of Ophthalmology and Medical Genetics\nUniversity of Alberta\nEdmonton, Alberta, Canadamacdonal@ualberta.caHoangStephanieMScAlberta Health Services\nEdmonton, Alberta, Canadastephanie.hoang@albertapubliclabs.caTuupanenSariPhDBlueprint Genetics\nHelsinki, Finlandsari.tuupanen@blueprintgenetics.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nX-Linked Dystonia-ParkinsonismSynonyms: DYT3, DYT-TAF1, LubagEvidenteVirgilio Gerald HMDDirector, Movement Disorders\nCenter of Arizona\nScottsdale, Arizonavevidente@movementdisorders.us\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nX-Linked HypophosphatemiaSynonyms: X-Linked Hypophosphatemic Rickets (XLHR); X-Linked Vitamin D-Resistant Rickets; Hypophosphatemic Rickets, PHEX-RelatedLaurentMichaël RMD, PhDCentre for Metabolic Bone DiseasesUniversity Hospitals LeuvenLeuven, Belgiummichael.laurent@uzleuven.beHarvengtPolPhDXLH BelgiumBelgian Association of Patients with XLH (A member of the International XLH Alliance)Waterloo, Belgiumpol.harvengt@gmail.comMortierGeert RMD, PhDCentre for Human GeneticsUniversity Hospitals LeuvenLeuven, Belgiumgeert.mortier@uzleuven.beBöckenhauerDetlefMD, PhDPaediatric NephrologyUniversity Hospitals LeuvenLeuven, Belgiumdetlef.bockenhauer@uzleuven.be\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nX-Linked Lymphoproliferative DiseaseMeyerLaurenMD, PhDDepartment of PediatricsUniversity of WashingtonSeattle, Washingtonlauren.meyer@seattlechildrens.orgHinesMelissaMDDivision of Critical Care MedicineSt Jude Children's Research HospitalMemphis, Tennesseemelissa.hines@stjude.orgZhangKejianMD, MBAGoBroad Healthcare GroupBeijing, Chinakejian.zhang2017@gmail.comNicholsKim EMDDepartment of OncologySt Jude Children's Research HospitalMemphis, Tennesseekim.nichols@stjude.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nX-Linked Myotubular MyopathySynonyms: Myotubular Myopathy (MTM), XLCNM, X-Linked Centronuclear Myopathy, XLMTMDowlingJames JMD, PhDDivision of Neurology\nProgram for Genetics and Genome Biology\nHospital for Sick Children\nToronto, Ontario, Canadajames.dowling@sickkids.caLawlorMichael WMD, PhDDepartment of Pathology and Laboratory Medicine and Neuroscience Research Center\nMedical College of Wisconsin\nMilwaukee, Wisconsinmlawlor@mcw.eduDasSomaPhDDepartment of Human Genetics\nUniversity of Chicago\nChicago, Illinoissdas@genetics.uchicago.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nReferences\n\nChapter Notes\n\nX-Linked ProtoporphyriaBalwaniManishaMD, MS, FACMGmanisha.balwani@mssm.eduDesnickRobertMD, PhD, FACMGrobert.desnick@mssm.eduPorphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nX-Linked Severe Combined ImmunodeficiencySynonyms: SCID-X1, X-Linked SCID (X-SCID)AllenspachEric JMD, PhDeric.allenspach@seattlechildrens.orgRawlingsDavid JMDdrawling@uw.eduPetrovicAleksandraMDaleksandra.petrovic@seattlechildrens.orgChenKarinMDkarin.chen@seattlechildrens.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nX-Linked Spondyloepiphyseal Dysplasia TardaSynonyms: TRAPPC2-Related SED Tarda, X-Linked (SED-XL); TRAPPC2-Related X-Linked Spondyloepiphyseal Dysplasia TardaTillerGeorge EMD, PhDDepartment of GeneticsSouthern California Permanente Medical GroupLos Angeles, Californiageorge.e.tiller@kp.org\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nXq28 Duplication Syndrome, Int22h1/Int22h2 MediatedSynonym: Xq28 Int22h-1/Int22h-2 Duplication SyndromeBalloutRami AMDClinical Fellow, Medical Genetics and Genomic Medicine Training ProgramNational Human Genome Research Institute (NHGRI)National Institutes of Health (NIH)Bethesda, Marylandrami-ballout@hotmail.comEl-HattabAyman WMD, FAAP, FACMGProfessor, Department of Clinical SciencesCollege of MedicineUniversity of SharjahSharjah, United Arab Emirateselhattabaw@yahoo.comSchaafChristian PMD, PhDProfessor and Chairman, Institute of Human GeneticsHeidelberg UniversityHeidelberg, Germanychristian.schaaf@med.uni-heidelberg.deCheungSau WaiPhD, MBA, FACMGProfessor, Department of Molecular and Human GeneticsBaylor College of MedicineHouston, Texasscheung@bcm.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nYARS1 DeficiencySynonyms: Autosomal Recessive YARS1-Related Disorder, Tyrosyl-tRNA Synthetase 1 Deficiency (TyrRS 1 Deficiency)AverdunkLuisaMDluisasusan.averdunk@med.uni-duesseldorf.deluisa.aver@gmail.comWangHuaMD, PhDhuawang@llu.eduHoytema van KonijnenburgEva MMMDe.m.m.hoytemavankonijnenburg-2@umcutrecht.nlFuchsSabine AMDs.fuchs@umcutrecht.nlNasser SamraNadranadran@ziv.gov.ilMandelHannaMDhmandel2637@gmail.comKwokAnne Mei-KwunMBBS(HK), FHKCPkwokmk@ha.org.hk\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nY Chromosome InfertilitySynonym: Y Chromosome-Related AzoospermiaFanYutingMDSilberSherman JMDsilber@infertile.com\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">YIF1B</italic>-Related Neurodevelopmental DisorderSynonym: Kaya-Barakat-Masson Syndrome (KABAMAS)Medico-SalsenchEvaMSce.medicosalsench@erasmusmc.nlKayaNamikPhDnkaya@kfshrc.edu.saBarakatTahsin StefanMD, PhD, MSct.barakat@erasmusmc.nl\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nZAP70 DeficiencySynonyms: ZAP70 Combined Immunodeficiency, ZAP-70 DeficiencyOwensJoshua WMDUPMC Children's Hospital of PittsburghPittsburgh, Pennsylvaniaowensjw@upmc.eduGrunebaumEyalMDCo-director, Food Allergy and Anaphylaxis ProgramDivision of Immunology and AllergySickKidsToronto, Canadaeyal.grunebaum@sickkids.caChongHey JinMD, PhD, FAAAAIDivision Director, Allergy & ImmunologyDirector, Pittsburgh Immunogenetics Discovery CenterAssociate Professor of PediatricsUPMC Children’s Hospital of PittsburghPittsburgh, Pennsylvaniahey.chong@chp.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nZellweger Spectrum DisorderSynonym: ZSDSteinbergSteven JPhDARUP LaboratoriesSalt Lake City, Utahsteven.steinberg@aruplab.comRaymondGerald VMDDepartment of Genetic MedicineJohns Hopkins HospitalBaltimore, Marylandgraymon4@jhmi.eduBravermanNancy EMS, MDDepartments of Pediatrics and Human GeneticsMcGill University and Research Institute of the McGill University Health CenterMontreal, Quebec, Canadanancy.braverman@mcgill.caMoserAnn BBAThe Peroxisomal Diseases LaboratoryKennedy Krieger InstituteDepartment of NeurologyJohns Hopkins University School of MedicineBaltimore, Marylandmosera@kennedykrieger.org\n\nSummary\n\n<italic toggle=\"yes\">GeneReview</italic> Scope\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\nZhu-Tokita-Takenouchi-Kim SyndromeSynonyms: SON Deficiency Syndrome, SON-Related Neurodevelopmental Disorder, SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome, ZTTK SyndromeMoriMariMDmari.mori@emory.eduLemaireMathieuMD, PhDmathieu.lemaire@sickkids.caRainesGraceMDgraceraines@uabmc.eduStoneBrandon SMDbrandon.stone@nationwidechildrens.orgAhnEun-Young ErinPhDeyahn@uabmc.edu\n\nSummary\n\nDiagnosis\n\nClinical Characteristics\n\nGenetically Related (Allelic) Disorders\n\nDifferential Diagnosis\n\nManagement\n\nGenetic Counseling\n\nResources\n\nMolecular Genetics\n\nChapter Notes\n\nReferences\n\n<italic toggle=\"yes\">GeneReviews</italic> Glossary\n\n", "complete": true, "provider": "europepmc" } ``` --- ### Citations Articles citing one Europe PMC record. Upstream pages by offset, not cursor. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/citations` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `id` | string | query | yes | Article identifier within the source — a PMID for MED, a PMCID for PMC | | `source` | enum(MED|PMC|PPR|AGR|CBA|CTX|ETH|HIR|PAT|NBK) | query | no | Source archive the id belongs to. Default MED | | `page` | number | query | no | Page number. Default 1 | | `limit` | number | query | no | Items per page. Default 25, max 100 | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/citations?id=33301246&source=MED&page=1&limit=25" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/citations?id=33301246&source=MED&page=1&limit=25", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/citations?id=33301246&source=MED&page=1&limit=25", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "id": "33301246", "page": 1, "count": 3, "items": [ { "id": "PPR1298176", "doi": null, "essn": null, "issn": null, "issue": null, "title": "A full-flow microfluidic platform for synthesis, purification and concentrating of lipid nanoparticles (LNPs)", "source": "PPR", "volume": null, "pubYear": 2026, "pageInfo": null, "authorString": "Tao J, Zhao J, Liu Y, Hu L, Zhou H, Wang B, Kang Y.", "citationType": "preprint", "citedByCount": 0, "externalLink": null, "journalAbbreviation": null }, { "id": "42595948", "doi": null, "essn": null, "issn": null, "issue": null, "title": "Exploring the Polyethylene Glycol-Modified Drug Patent Landscape by Deep Learning.", "source": "MED", "volume": null, "pubYear": 2026, "pageInfo": null, "authorString": "Zhang T, Deng D, Zhang X, Chen W, Wang P, Li X, Cong J, Wei B, Liu K.", "citationType": "journal article", "citedByCount": 0, "externalLink": null, "journalAbbreviation": "Ther Innov Regul Sci" }, { "id": "42594644", "doi": null, "essn": null, "issn": null, "issue": null, "title": "Implications for future pandemics from a living systematic review and critical evaluation of observational studies of the effectiveness of COVID-19 vaccination against the Omicron variant.", "source": "MED", "volume": "90", "pubYear": 2026, "pageInfo": "128993", "authorString": "Kazi F, Shapland CY, Spiga F, Villanueva G, Cornish RP, Henschke N, Cogo E, Sebastianski M, Aarabi M, Bergman H, Buckley B, Clayton GL, French CE, Liu J, Madley-Dowd P, Pelone F, Petkovic J, Probyn K, Saulle R, Savović J, Wilson R, Beck CR, Higgins JPT.", "citationType": "journal article", "citedByCount": 0, "externalLink": null, "journalAbbreviation": "Vaccine" } ], "limit": 3, "total": 12080, "source": "MED", "hasMore": true, "nextPage": 2, "provider": "europepmc" } ``` --- ### Database Links Cross-references from one Europe PMC record into the molecular databases (UniProt, PDB, ENA, ChEBI …). Upstream names the filter `database`. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/database-links` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `id` | string | query | yes | Article identifier within the source — a PMID for MED, a PMCID for PMC | | `source` | enum(MED|PMC|PPR|AGR|CBA|CTX|ETH|HIR|PAT|NBK) | query | no | Source archive the id belongs to. Default MED | | `database` | string | query | no | Restrict to one database, such as EMBL, UNIPROT, PDB, CHEBI, OMIM, PRIDE | | `page` | number | query | no | Page number. Default 1 | | `limit` | number | query | no | Items per page. Default 25, max 100 | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/database-links?id=18407985&source=MED&database=EMBL&page=1&limit=25" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/database-links?id=18407985&source=MED&database=EMBL&page=1&limit=25", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/database-links?id=18407985&source=MED&database=EMBL&page=1&limit=25", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "id": "18407985", "page": 1, "count": 0, "items": [], "limit": 3, "total": null, "source": "MED", "hasMore": false, "database": "EMBL", "nextPage": null, "provider": "europepmc" } ``` --- ### Full Text JATS full-text XML for one open-access PMC record. Non-JSON upstream, so this is a flat single object; the body is read against a byte ceiling and the 60s wall. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/full-text` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `pmcid` | string | query | yes | PMC identifier of an article whose full text is in Europe PMC | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/full-text?pmcid=PMC3258128" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/full-text?pmcid=PMC3258128", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/full-text?pmcid=PMC3258128", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "id": "PMC3258128", "bytes": 94004, "format": "xml", "source": "PMC", "content": "
4narNucleic Acids ResearchNucleic Acids ResOxford University PressPMC3258128325812832581282193751110.1093/nar/gkr715Hepato-specific microRNA-122 facilitates accumulation of newly synthesized miRNA through regulating PRKRALiShuai1ZhuJuanjuan1,2FuHanjiang1WanJing1HuZheng1LiuShanshan1LiJie1,2TieYi1XingRuiyun1ZhuJie1SunZhixian1ZhengXiaofei1*1Beijing Institute of Radiation Medicine, Beijing 100850 and 2Anhui Medical University, Hefei 230032, P. R. China

*To whom correspondence should be addressed. Tel: +86 10 68214653; Fax: +86 10 68214653; Email: xfzheng100@126.com

The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.

2192011402884884–8911712012© The Author(s) 2011. Published by Oxford University Press.This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.Abstract

microRNAs (miRNAs) are a versatile class of non-coding RNAs involved in regulation of various biological processes. miRNA-122 (miR-122) is specifically and abundantly expressed in human liver. In this study, we employed 3′-end biotinylated synthetic miR-122 to identify its targets based on affinity purification. Quantitative RT-PCR analysis of the affinity purified RNAs demonstrated a specific enrichment of several known miR-122 targets such as CAT-1 (also called SLC7A1), ADAM17 and BCL-w. Using microarray analysis of affinity purified RNAs, we also discovered many candidate target genes of miR-122. Among these candidates, we confirmed that protein kinase, interferon-inducible double-stranded RNA-dependent activator (PRKRA), a Dicer-interacting protein, is a direct target gene of miR-122. miRNA quantitative-RT–PCR results indicated that miR-122 and small interfering RNA against PRKRA may facilitate the accumulation of newly synthesized miRNAs but did not detectably affect endogenous miRNAs levels. Our findings will lead to further understanding of multiple functions of this hepato-specific miRNA. We conclude that miR-122 could repress PRKRA expression and facilitate accumulation of newly synthesized miRNAs.

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Received 2010 Dec 13; Revised 2011 Aug 14; Accepted 2011 Aug 18; Issue date 2012 Jan; Collection date 2012 Jan.

INTRODUCTION

MicroRNAs (miRNAs) are small conserved RNAs of ∼22 nt which negatively modulate gene expression in animals and plants, primarily through base paring to the 3′-untranslated region (UTR) of target messenger RNAs (mRNAs). This leads to mRNA cleavage and/or translation repression (1). miRNAs are primarily transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by Drosha ribonuclease III enzyme to produce an ∼70-nt stem–loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA. The mature miRNA is incorporated into an RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA. Bioinformatic analysis predicts that each miRNA may regulate hundreds of target genes, suggesting that miRNAs may play a role in almost every biological pathway (2). Indeed, miRNAs have been implicated in the regulation of various cellular processes, including cell proliferation, apoptosis and stress responses (3–6).

One of the first clues of the existence of miRNAs in mammals came from studies on genetic alterations in woodchuck liver tumors. In 1989, a gene rearrangement of c-myc and an unusual transcript, named hcr, was described in one of these tumors. This transcript was characterized as liver specific, essentially non-coding, specifically nuclear and processed by endonucleases (7). Furthermore, hcr was proposed to be the precursor for miR-122. In the current understanding, the part of the hcr transcript encompassing the so-called ‘pri-miRNA’ is predicted to be processed to form a 66-nt long ‘pre-miRNA’, which presents a hairpin structure with 79% base pairing, and which will ultimately be cleaved by the endonuclease Dicer to form the mature miR-122 (8). Recent works on tissue-specific miRNAs has demonstrated miRNAs participation in tissue specification and cell lineage decisions (9–11). Among these tissue-specific miRNAs, miR-122 is one which is specifically expressed in adult liver and constitutes 70% of the total miRNA population (12–14). Recent studies showed that miR-122 could modulate lipid metabolism (15,16), hepatitis C virus (HCV) replication (17–19), apoptosis (20) and play a role in hepatocellular carcinoma (HCC) (21–23). To better understand the role of this liver-specific miRNA, the identification of the target genes of miR-122 is necessary.

In the present study, we employed 3′-end biotinylated synthetic miR-122 to identify its target genes based on affinity purification as described previously (24,25). Quantitative reverse transcriptase–polymerase chain reaction (RT–PCR) analysis of the affinity purified RNAs demonstrated a specific enrichment of several reported miR-122 targets, such as CAT-1 (13), ADAM17 (22) and BCL-w (20). By microarray, many candidate target genes of miR-122 were identified. We also verified that PRKRA, which showed a high of enrichment in affinity purification assay, was a new target gene of miR-122. Furthermore, the over-expression of miR-122 could facilitate the accumulation of newly synthesized miRNA.

MATERIALS AND METHODSCell lines and cultures

HepG2 and HeLa cell lines were cultured in DMEM (GIBCO BRL, Grand Island, NY, USA) containing 10% FBS with 100 U/ml penicillin and 100 mg/ml streptomycin at 37°C with 5% CO2.

Affinity purification experiments

To identify mRNAs associated with miRNA-122, affinity purification experiments were performed as described previously (Supplementary Figure S1, see Supplementary Methods for details) (24,25). Synthetic miRNA-122 duplexes were produced carrying a biotin group attached to the 3′-end of the miRNA sense strand (TaKaRa, Dalian, China) and transfected into HepG2 cells. Cells were harvested 48 h after transfection. The isolated RNA was ready for downstream qRT–PCR or microarray analysis.

Real-time qRT–PCR for mRNA

Total RNA was isolated using TRI Reagent (Sigma-Aldrich, St Louis, USA). cDNA was generated by reverse transcription using 1 μg of total RNA and ImProm-IITM Reverse Transcription System (Promega, Madison, WI, USA). Quantitative real-time PCR was performed on the MX 3000PTM PCR Instrument (Stratagene, La Jolla, USA) using SYBR Premix EX TaqTM (TaKaRa). Forward (F) and reverse (R) primers used were as follows: GAPDH-F 5′-tcagtggtggacctgacctg-3′, GAPDH-R 5′-tgctgtagccaaattcgttg-3′; BCL-w -F 5′-tttggttcggctttatcagg-3′, BCL-w-R 5′-gaggactgcgagttccaaag-3′; CAT-1-F 5′-ggctgtcctctggtgagaag-3′, CAT-1-R 5′-ggccaccagatcaaaagtgt-3′; ADAM-17-F 5′-ctgtggtgcaaaagcagaaa-3′, ADAM-17-R 5′-tgccaaatgcctcatattca-3′; PRKRA-F 5′-acgaatacggcatgaagacc-3′, PRKRA-R 5′-tggaagggtcaggcattaag-3′; A20-F 5′-gagagcacaatggctgaaca-3′, A20-R 5′-tccagtgtgtatcggtgcat-3′.

Microarray hybridization

RNA from affinity purification experiments was linear amplified (Two-Cycle Eukaryotic Target Labeling Kit, P/N 900494, Affymetrix, Inc., Santa Clara, CA, USA) and analyzed on Affymetrix human u133 plus 2.0 microarrays, which include a set of human maintenance genes to facilitate the normalization and scaling of array experiments. This set of genes serves as a tool to normalize and scale the data prior to performing data comparisons.

miRNA target site analysis

Affymetrix probe set identifiers were mapped to Ensembl transcripts using the Ensembl Biomart system. The 3′-UTR sequences were extracted from Ensembl using Biomart utilities. UltraEdit software was used to search candidate 3′-UTR for seed matches (perfect Watson–Crick matches between the 6-mer from bases 2 to 7 of the miRNA from the 5′-end) with none or one of three kinds of extensions: (i) an A across from nucleotide 1 in the miRNA (seedM+t1A), (ii) an additional match between the site and nucleotide 8 in the miRNA (seedM+m8M) and (iii), the combination of (i) and (ii) (seedM+m8M+t1A). TargetScan software (www.targetscan.org) was used to search for conserved miR-122-binding sites.

Plasmid construction

For the expression of miR-122, miR-133 or miR-30a, genomic fragment of Homo sapiens miR-122, miR-133 or miR-30a precursor was amplified and cloned into pcDNA3.0 (Invitrogen, Carlsbad, CA, USA). PRKRA 3′-UTR segment was subcloned into the pGL3 Control vector (Promega) immediately downstream of the stop codon of the luciferase gene. PCR with the appropriate primers also generated inserts with point substitutions in the miRNA complementary sites. Wild-type and mutant inserts were confirmed by sequencing.

miRNA qRT–PCR

For miRNA detection, total RNA was polyadenylated by poly (A) polymerase (Ambion, Austin, USA). An amount of 50 μl polyadenylation reaction was set up with 10 μg total RNA and 1 μl (2U) poly (A) polymerase according to the manufacturer's protocol. After incubation at 37°C for 60 min, poly (A)-tailed total RNA was recovered by phenol/chloroform extraction and ethanol precipitation. RT reaction was performed using 1 μg poly (A) tailed total RNA and 1 μg RT primer [5′-gcgagcacagaattaatacgatcactatagg(t)18VN-3′] with 1 μl ImProm-IITM Reverse Transcriptase (Promega) according to the manufacturer's protocol. qPCR was performed as described in the method of Quantitect SYBR Green PCR Kit (Qiagen, Hilden, Germany) with Mx3000pTM (Stratagene) supplied with analytical software. One primer of miRNA amplification is miRNA specific (miR-122 5′-tggagtgtgacaatggtgtttg-3′; miR-16 5′-tagcagcacgtaaatattggcg-3′; miR-24 5′-tggctcagttcagcaggaacag-3′; miR-133 5′-tttggtccccttcaaccagctg-3′; miR-30a 5′-tgtaaacatcctcgactggaag-3′), and the other is a universal primer (5′-gcgagcacagaattaatacgac-3′). U6 snRNA levels were used for normalization (U6-F 5′-cgcttcggcagcacatatacta-3′; U6-R 5′-cgcttcacgaatttgcgtgtca-3′).

miRNAs, small interfering RNAs and transfection

The miR-122 duplex and PRKRA small interfering RNAs (siRNAs) were designed and synthesized by GenePharma (GenePharma, Shanghai, China). The sequences of miRNA duplex and siRNAs were presented in Supplementary Table S1. siRNAs and miRNAs were transfected using Lipofectamine 2000 (Invitrogen). In brief, cells were cultured in a six-well plate to 50% confluence. For each well, 5 μl siRNA (20 μM) or miRNA (20 μM) was added into 250 μl Opti-MEM medium (GIBCO BRL), 4 μl of Lipofectamine 2000 into 250 μl Opti-MEM medium and then mixed siRNA or miRNA with Lipofectamine 2000 after 5 min incubation. After 20 min, the mixture was added to cells and incubated for 6 h before replacing the medium. Total RNA and protein were prepared 48 or 72 h after transfection and were used for qRT–PCR or western blotting analysis.

Western blot

Total cell lysate was prepared in 1× SDS buffer. Proteins at the same amount were separated by SDS–PAGE and transferred onto PVDF membranes. After probing with anti-PRKRA (10771-1-AP; Protein Tech Group, Inc., Chicago, USA) or anti-β-actin antibody (Beijing Zhongshan Biotechnology, Beijing, China) and incubating with proper secondary antibody, antigen–antibody complex was visualized by enhanced chemiluminescence's reagents Supersignal (Pierce, Rochford, IL, USA).

Luciferase reporter assay

Adherent HepG2 cells were grown in DMEM with 10% FBS to 80–90% confluency in 24-well plates. Cells were co-transfected with 100 ng of firefly luciferase reporter vector containing the PRKRA 3′-UTR (named pGL3-PRKRA-3′-UTR) or PRKRA mutant (named pGL3-PRKRA-3′-UTRmut) and 8 ng of the control vector containing Renilla luciferase, pRL-TK (Promega), in a final volume of 0.5 ml using Lipofectamine 2000 (Invitrogen). Firefly and Renilla luciferase activities were measured consecutively using the Dual-luciferase assays (Promega) 48 h after transfection.

Statistic analysis

All data are presented as means ± SD. Differences were assessed by two-tailed Student's t-test using Excel software. P < 0.05 was considered to be statistically significant.

RESULTSAffinity purification of miR-122 target mRNAs

To identify mRNA targets of miR-122, we employed an affinity-based target-identification procedure in which miR-122 is synthesized with a 3′-biotin group allowing for subsequent purification with streptavidin (Supplementary Figure S1). This technique has been previously verified for affinity purification of miRNA targets in Drosophila melanogaster cells and human neuronal cells (24,25). We validated the technique using a biotin-tagged miR-122 targeting several reported targets such as CAT-1 (13), ADAM17 (22) and BCL-w (20). Affinity purification experiments in HepG2 cells resulted in a 2- to 19-fold enrichment of these endogenous targets (Figure 1).\n

Affinity purification with biotin-tagged miR-122 from human hepatoma HepG2 cells and quantitative RT–PCR for its endogenous target CAT-1, ADAM17 and BCL-w. HepG2 cells were treated with cell lysis buffer 48 h after transfection. Data were normalized to the level of GAPDH mRNA. Results of the mean of triplicate quantitative PCR assays with standard deviation of the mean are presented. *P < 0.05.

To identify more targets of miR-122, RNAs from affinity purification experiment were linear amplified and analyzed on microarrays. Microarray results showed that 1474 genes were enriched >2-fold by 3′-biotin modified miR-122 (output) compared with total RNA (input) (Supplementary Table 2). We examined the 3′-UTRs for the presence of the 6-nt sequence CACTCC, which is the reverse complement of the nucleotides 2–7 seed in the mature miR-122 sequence. About 39% of the enriched mRNAs having at least one miR-122 recognition sequence, while the seed match frequency in all annotated human 3′-UTRs was only 25%, implying that a significant pool of the enriched mRNAs correspond to direct miR-122 targets in the liver (P < 0.001, Figure 2B and Supplementary Table S3). Detailed studies indicate that the presence of extended seed matches increases the likelihood that a given message is regulated by a miRNA (26,27). We therefore examined the identified seed matches for the presence of an A anchor corresponding to the 5′ most nucleotide of miR-122, as well as for an extended match to base 8 of miR-122 as described by Lewis et al. (26). Both the 7-nt and the 8-nt seed matches were significantly enriched in our microarray data (Figure 2Aand B; Supplementary Table S3). Moreover, about one-third of the conserved targets predicted by TargetScan software showed >2-fold of enrichment by biotin modified miR-122 (38 out of 124, Supplementary Table S2).\n

A significant enrichment of miR-122 targets by biotin-tagged miR-122. (A) Different seed types of miR-122. (B) The occurrence of miR-122 6-, 7- or 8-nt seed sequence matches in biotin-miR-122 enriched mRNAs (grey columns) and in all human annotated genes (white columns).

The GO analysis revealed that the enriched genes were over represented in gene categories involved in cellular functions associated with the regulation of transcription and RNA splicing, as well as development and cell cycle (Supplementary Table S4 and See Supplementary Table S5 for details).

Interaction between miR-122 and the 3′-UTR of PRKRA mRNA

In previously mentioned affinity purification experiment, PRKRA showed a high-level enrichment (∼45-fold) and harbored one putative binding site for miR-122 in its mRNA's 3′-UTR which was conserved across various species (Figure 3A). To investigate the potential miRNA:mRNA interaction, the human PRKRA 3′-UTR was subcloned after the firefly luciferase open reading frame (ORF) and cotransfected into HepG2 cells with the miR-122 duplex, which could mimic miR-122 molecule. miR-122 duplex could lead to a 60% decrease of relative luciferase activity compared with Negative Control transfected cells (Figure 3B). An analogous reporter with point substitutions disrupting the target sites (as illustrated, Figure 3A) was also contransfected with miR-122 duplex. There was no decrease of relative luciferase activity in miR-122 duplex transfected cells compared with Negative Control transfected cells (Figure 3B).\n

miR-122 inhibits PRKRA expression. (A upper panel) The target site of miR-122 in PRKRA 3′-UTR is conserved among mammalian species. (A lower panel) Predicted duplex formation between miR-122 and the targeted PRKRA 3′-UTR. The PRKRA 3′-UTR mutant is identical with the wild-type except that its three point substitutions disrupting pairing to miR-122 seed. (B) pGL3-PRKRA-3′-UTR reporter plasmid in which the luciferase-coding sequence had been fused to the 3′-UTR of PRKRA was cotransfected into HepG2 cells with Negative Control (grey columns) or miR-122 duplex (white columns). Luciferase activity was normalized relative to a simultaneously transfected Renilla expression plasmid. 3′-UTR-Mut indicates the introduction of alterations into the seed complementary sites shown in Figure 3A. Results of the mean of quadruplicate assays with standard deviation of the mean are presented. *P < 0.05. (C) Western blots of PRKRA from HepG2 cells. Cells were transfected with Negative Control or miR-122 duplex. Cells were harvested 48 h later, and 30 μg of whole-cell lysate was added into each lane. A β-actin antibody was used in a reprobing as a loading control. (D) Real-time RT–PCR of PRKRA in HepG2 cells transfected with the Negative Control or miR-122 duplex for 48 h. Data were normalized to the level of GAPDH mRNA. Results of the mean of triplicate qPCR assays with standard deviation of the mean are presented. *P < 0.05.

PRKRA is a potential target of miR-122

To learn whether miR-122 can affect endogenous PRKRA, we examined the impact of this miR-122 on PRKRA protein expression in cultured cells. Western blot from protein extracts obtained from the HepG2 cells revealed dramatically reduction in PRKRA protein level after miR-122 duplex transfection (Figure 3C). In contrast, negative control-transfected cells showed no reduction in PRKRA protein level. Because inhibition of expression by miRNA may also be mediated by mRNA degradation (28,29), we examined whether the PRKRA mRNA levels might be affected by miR-122. Figure 3D showed the PRKRA mRNA level was dramatically reduced by miR-122 duplex (42% reduction). Taken together, affinity purification experiment, luciferase data, immunoassay and real-time qRT–PCR assay provided strong evidences that PRKRA is a target of miR-122.

miR-122 facilitates accumulation of newly synthesized miRNA through downregulate PRKRA

PRKRA (PACT) cDNA was cloned by virtue of its interaction with PKR (30). PRKRA is a human cellular protein that heterodimerizes with PKR through its double-stranded RNA-binding domains (dsRBDs) and activates PKR pathway in vitro and in vivo in the absence of dsRNA. In contrast to PRKRA, the human immunodeficiency virus transactivating response RNA-binding protein (TRBP), another dsRBD protein with 42% identity to PRKRA, has an inhibitory effect on PKR (31). The opposite effects of PRKRA and TRBP on PKR activity are mediated by the C-terminal dsRBDs, which are devoid of detectable dsRNA-binding properties (31). PRKRA and TRBP have been demonstrated recently to interact with RNase III Dicer, a key enzyme involving in miRNA maturation, through their C-terminal dsRBDs (32–35). By using siRNA against TRBP, Chendrimada et al. (32) found that TRBP knockdown reduced endogenous miRNA levels in cell culture, whereas Haase et al. (33) saw no such reduction.

To assess the potential role of PRKRA in miRNA pathway, we transfected HeLa cells with miR-122 duplex or siRNAs against PRKRA. Via miRNA-RT–qPCR, we found the endogenous levels of miR-16 and miR-24 changed only slightly after the depletion of PRKRA (Figure 4A and B). This supports the previous observation that mature miRNA is highly stable in cells and therefore the changes in the steady-state level of mature miRNA may be difficult to detect (36–38). Then we cotransfected miR-133 expressing vector (pcDNA3.0-miR133) with miR-122 duplex or siRNAs against PRKRA into HeLa cells. Results from miRNA-RT–qPCR indicated that miR-122 duplex, siPRKRA-1 and siPRKRA-2 could facilitate accumulation of newly synthesized miR-133 (Figure 4C). We also found that PRKRA siRNAs could also facilitate accumulation of newly synthesized miR-122 when HeLa cells were cotransfected with miR-122 expressing vector (pcDNA3.0-miR122) (Figure 4D). Similar results were observed in HepG2 cell line (data not shown). To monitor PKR activity, we analysis the expression of Tnfaip3 (A20) which could be induced by PKR activation through NF-κB pathway (39,40). Real time qRT–PCR results showed that downregulation of PRKRA by siRNA has no effect on A20 expression (Supplementary Figure S3). Our findings that PRKRA knockdown facilitated accumulation of newly synthesized miRNA support the hypothesis that PRKRA and TRBP have opposite effects on miRNA maturation just like the situation in PKR pathway (Figure 5).\n\n

miR-122 facilitates the accumulation of newly synthesized miRNA through regulating PRKRA. (A and B) miRNA-RT–qPCR detected the expression of miR-16 and miR-24. HeLa cells were transfected with the Negative Control siRNA, miR-122 duplex, siPRKRA-1 or siPRKRA-2 for 48 h. (C) miRNA-RT–qPCR detected the expression of miR-133. HeLa cells were cotransfected with miR-133 expressing vector (pcDNA3.0-miR133) and Negative Control siRNA, miR-122 duplex, siPRKRA-1 or siPRKRA-2 for 48 h. (D) The same experiment as described in (C), except for cotransfecting HeLa cells with miR-122 expressing vector (pcDNA3.0-miR122) and Negative Control siRNA, siPRKRA-1 or siPRKRA-2 for 48 h. Total RNA was poly-A tailed, reverse transcripted and then real-time PCR tested. Data were normalized to the level of U6 RNA. Results of the mean of triplicate quantitative PCR assays with standard deviation of the mean are presented.

The regulation of miRNA maturation and PKR pathway by TRBP and PRKRA. PRKRA and TRBP involved in the regulation of PKR pathway and the maturation of miRNAs through interacting with PKR or Dicer, respectively.

DISCUSSION

The present study shows that PRKRA could be enriched by 3′-biotin modified miR-122. It is also shown that PRKRA is negatively regulated by miR-122 via a specific target site within the 3′-UTR. Moreover, we showed that miR-122 facilitates accumulation of newly synthesized miRNA through downregulating PRKRA expression. The identification of miR-122 as an important regulator of miRNA maturation emphasizes an essential role of this liver-specific miRNA.

Sophisticated mechanisms regulating RNA may explain the gap between the great complexity of cellular functions and the limited number of primary transcripts. Regulation by miRNAs underscores this possibility, as each miRNA is believed to bind directly to many mRNAs to regulate their translation or stability and thereby control a wide range of activities. Despite their biological importance, determining the targets of miRNAs is a major challenge. Attention has largely been laid on computational predictions of targets based on the observation that many miRNAs can recognize their targets by binding to motifs in the 3′-UTR sequences complementary to bases 2–8 of the miRNA (the seed region) (41). Whereas these algorithms have been instrumental in many studies of individual miRNA:mRNA interactions, unbiased approaches to study miRNA target recognition are important to discover new features of miRNAs. In this study, we used a direct affinity-based procedure to isolate target mRNAs bound by miR-122. These results will help us to understand the function of this liver-specific miRNA. While preparing this manuscript one group has published a paper demonstrating miR-122 targeting CUTL1 (CUX1) during liver development, which is also enriched by biotin-tagged miR-122 (Supplementary Table S2) (42).

The affinity-based target-identification procedure was performed following Orom et al. (24,25) with some modification. The non-specific binding of RNAs to streptavidin–agarose beads was unavoidable even we washed the beads four times with cell lysis buffer. Therefore, GAPDH with no putative target site of miR-122 was chosen to serve as an internal control. If one gene is the target of miR-122, the output would contain more mRNA/GAPDH than the Input. To validate our results, we also normalize mRNA with β-actin (no putative target site of miR-122 in its 3′-UTR). Results from real-time PCR showed that miR-122's known target gene had enrichment in Ouput when normalized to GAPDH or β-actin (Figure 1 and Supplementary Figure S4).

miRNAs are generated by a two-step processing pathway. Primary miRNAs are processed to pre-miRNAs by Drosha. These pre-miRNAs are cleaved by Dicer to generate mature miRNAs (43–45). In human cells, Drosha exists as part of a protein complex called the Microprocessor complex, which contains the dsRNA-binding protein DGCR8 (also called Pasha). DGCR8 is essential for Drosha activity and capable of binding single-stranded fragments of the pri-miRNA that are required for proper processing (46,47). Dicer also exists as part of a protein complex which contains two dsRNA-binding proteins, TRBP and PRKRA (32–35). It was reported that TRBP knockdown reduced endogenous miRNA levels in cell culture (32). Here, we found that PRKRA knockdown by miR-122 duplex or siRNAs against PRKRA could facilitate accumulation of newly synthesized miRNA. Thus dsRNA-binding protein such as DGCR8, TRBP and PRKRA could affect the miRNAs processing pathway by interacting with Drosha or Dicer.

However, our finding that PRKRA is a negative regulator of miRNA processing is in direct conflict with the finding of Lee et al. (34). They demonstrated that the reduction of PRKRA protein results in reduced miRNA accumulation. The contradictory results probably reflect the different methodologies. Lee et al. depleted PRKRA by RNAi from a HeLa cell line that expresses pri-miR-30a from the tetracycline-inducible promoter. After incubation with siRNA, the cell line was exposed to doxycycline, the derivative of tetracycline, for induction of pri-miR-30a. By using northern blotting on miR-30a, they found that reduction of PRKRA protein levels results in reduced miRNA accumulation. While we co-transfected siRNA and miRNA-expressing vector into HeLa cell line. By using miRNA quantitative-RT–PCR, we found that PRKRA siRNAs could facilitate the accumulation of miRNA. Moreover, we co-transfected PRKRA siRNAs and miR-30a-expressing vector (the specific miRNA investigated by Lee et al.) into HeLa cell line. Forty-eight hours after transfection, we employed miRNA quantitative-RT–PCR to detect miR-30a expression and found that PRKRA siRNAs could also facilitate the accumulation of miR-30a (Supplementary Figure S5).

An interesting paradox exists between TRBP and PRKRA, which shares 42% amino acid sequence identity. TRBP inhibits the dsRNA-activated PKR, whereas PRKRA activates this protein—both using their C-terminal domains for these functions (31). TRBP and PRKRA could interact with Dicer, raising the intriguing possibility that TRBP and PRKRA modulate PKR differentially in response to dsRNAs in the cytoplasm. For instance, it would be disadvantageous to the cell to have miRNA precursors activating PKR, as this may ultimately lead to cell death. Thus, our findings suggest that TRBP and PRKRA might be responsible for keeping the balance between PKR pathway and pre-miRNA processing (Figure 5).

In conclusion, miR-122, a hepato-specific miRNA, inhibits the expression of Dicer-interacting PRKRA gene by binding to the 3′-UTR of PRKRA mRNA and thereby facilitates the accumulation of newly synthesized miRNA.

SUPPLEMENTARY DATA

Supplementary Data are available at NAR Online: Supplementary material, Supplementary tables, Supplementary figures 1–5.

FUNDING

Chinese State Key Projects for Basic Research (2010CB912801, 2007CB914601); partially by grants from Chinese Key Project for the Infectious Diseases (2008ZX10002-016); and Chinese National Natural Science Foundation (30870529, 30873008). Funding for open access charge: Chinese State Key Projects for Basic Research (2010CB912801).

Conflict of interest statement. None declared.

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", "complete": true, "provider": "europepmc" } ``` --- ### Grants GRIST grant records. The upstream folds its whole query string into one path segment and mangles any parameter it does not know, so order and set are fixed. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/grants` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `query` | string | query | yes | Free text, or a GRIST field expression such as gr.gid eq "23942" or pi.fn eq "Smith" | | `resultType` | enum(lite|core) | query | no | Field depth per record. Default core, which carries the abstract and amount | | `page` | number | query | no | Page number. Default 1. Upstream fixes the page at 25 records | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/grants?query=malaria&resultType=core&page=1" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/grants?query=malaria&resultType=core&page=1", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/grants?query=malaria&resultType=core&page=1", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "page": 1, "count": 25, "items": [ { "grant": { "doi": "10.3030/101231026", "type": "Consolidator Grant", "alias": "101231026", "title": "Evolution of Mechanisms for Sex Chromosome Dosage Compensation and Gene Regulation (EMERGE)", "amount": 1999177, "funder": { "name": "European Research Council", "fundRefId": "https://doi.org/10.13039/501100000781", "searchTerm": "European Research Council" }, "stream": "Frontier Research", "endDate": "2031-07-31", "grantId": "101231026", "abstract": "There is a remarkable diversity of phenotypes among multicellular animals, including differences between males and females. A major driver of phenotypic variation stems from differences in gene regulation. The evolution of these regulatory mechanisms is a central, yet unresolved question in biology. Sex chromosome dosage compensation (SCDC) is an epigenetic process that equalizes sex chromosomal gene expression between males and females. EMERGE uses SCDC as a model to uncover how and why epigenetic mechanisms evolve and function across animals. We will employ a taxonomic gradient from (1) molecular studies in malaria mosquitos to (2) comparative mechanistic analyses across multiple insects, and finally to (3) a broad investigation across all animal clades. First, we will determine how a novel SCDC pathway in malaria mosquitos evolved to specifically regulate the X chromosome. To achieve this, we will use heterologous expressions, alongside in vitro biochemistry and proximity proteomics. Second, we will assess the physiological relevance of SCDC to determine why its absence is lethal in only certain contexts and species. We will test how proteome homeostasis, transcriptional noise, and critical genes influence essentiality. Third, we will explore the diversity of SCDC mechanisms across dozens of animal species with heteromorphic sex chromosomes, including unexplored phyla such as Cnidaria or Mollusca. Employing microscopy, transcriptomics, proteomics, and epigenome profiling, we will study SCDC patterns, conserved and lineage-specific adaptations, as well as regulatory mechanisms. Our findings are expected to reveal general principles of how chromatin controls gene expression, responds to dosage imbalances, and evolves across the animal tree of life. By comprehensively investigating both sexes, EMERGE will at the same time shed light on the regulatory and physiological differences between males and females, a heavily overlooked aspect in research and healthcare.", "category": "Horizon Europe", "currency": "EUR", "startDate": "2026-08-01", "abstractType": "scientific", "abstractLanguage": "en" }, "person": { "orcid": "0000-0003-4135-5927", "title": "Dr", "initials": "C", "givenName": "Claudia", "familyName": "Keller Valsecchi" }, "institution": { "name": "University of Basel", "rorId": "02s6k3f65", "department": null, "officialName": "University of Basel" } }, { "grant": { "doi": null, "type": "Research Grant", "alias": "UKRI3660", "title": "Mining the Cryptosporidium kinome: using kinobead technology to reveal novel biology and potential therapeutic targets", "amount": 1211707, "funder": { "name": "Medical Research Council", "fundRefId": "https://doi.org/10.13039/501100000265", "searchTerm": "Medical Research Council" }, "stream": "MRC: Apr 2025: research: infections and immunity: responsive mode", "endDate": null, "grantId": "UKRI3660", "abstract": "Diarrhoeal disease is a leading cause of morbidity and mortality for young children. The WHO estimates that 10% of the deaths of children under the age of five globally are due to diarrheal disease. In 2013 the Global Enteric Multicentre Study identified the pathogens responsible for deadly diarrhoeal disease. Surprisingly, cryptosporidiosis caused by infection with Cryptosporidium parasites, was revealed as second only to Rotavirus in causing deadly disease. Diarrhoea from cryptosporidiosis is severe, but self-limiting in immune-competent people. However, for young, malnourished children and the immunocompromised, the disease can be fatal. Annually there are an estimated 7.5 million cases of cryptosporidiosis, resulting in >200,000 deaths. Recurrent diarrhoeal episodes associated with cryptosporidiosis alters gut morphology, leading to growth stunting, delayed development, and impaired cognitive function. The greatest impact of the disease occurs in Low and Middle-Income Countries. However, waterborne outbreaks threaten public health in High-Income Countries including the USA and UK. Waterborne outbreaks also carry significant economic impact. Unfortunately, there is no vaccine and no effective treatment for cryptosporidiosis. New drugs are desperately needed. Phosphorylation, the addition of a phosphate group to a molecule or protein, is mediated by kinases. Kinases are key regulators of cell signalling and play a crucial role in modulating almost all cellular events. Therefore, it is no surprise that kinase inhibitors have become one of the pharmaceutical industry’s most important drug target classes with ~30% of drug discovery efforts worldwide directed at the kinase superfamily. Despite the fact that little is known about the function of kinases in Cryptosporidium, they are gaining traction as exploitable drug targets. The two compounds currently in development for cryptosporidiosis specifically target kinases. In addition, compounds known to inhibit kinases kill Cryptosporidium parasites, although the details about how the compounds do this are unknown. In order to leverage these promising compounds as treatments for cryptosporidiosis, it is critical to identify which specific kinase, or kinases they target (Cryptosporidium have >100 kinases). This information will strengthen current drug discovery projects and help initiate new ones. Unfortunately, many of the tools and reagents available to identify the targets of kinase inhibitors are optimised for human kinases and are considerably less effective for the study of kinases in other organisms. Similarly, compared to other related parasites, like Plasmodium and Toxoplasma (which cause malaria and toxoplasmosis respectively), our understanding of the basic biology of Cryptosporidium is limited. To address this knowledge gap, we will adopt an interdisciplinary approach that combines chemistry, proteomics (the study of proteins), biology, and genetics. To better understand the role of kinases in Cryptosporidium biology we will: 1] develop Cryptosporidium-centric chemical tools; 2] use these tools, in combination with proteomics, to identify the protein targets of kinase inhibitors capable of killing Cryptosporidium parasites and 3] interrogate the biology and function(s) of these biologically significant Cryptosporidium kinases. This research will improve our fundamental understanding of Cryptosporidium biology and will lay the foundations for the future exploitation of kinases for anti-cryptosporidial drug discovery. Effective drugs for cryptosporidiosis will lead to improvements to the health and welfare of children and immune-compromised patients world-wide.", "category": null, "currency": "GBP", "startDate": "2026-06-30", "abstractType": "scientific", "abstractLanguage": "en" }, "person": { "orcid": null, "title": null, "initials": "SW", "givenName": "Susan", "familyName": "Wyllie" }, "institution": { "name": "University of Dundee", "rorId": "03h2bxq36", "department": null, "officialName": "University of Dundee" } }, { "grant": { "doi": null, "type": "Discretionary Award", "alias": [ "351995", "351995/Z/26/Z" ], "title": "Establishment of Climate and Health Science and Policy Consortium in Eastern Africa", "amount": 20000, "funder": { "name": "Wellcome Trust", "fundRefId": "https://doi.org/10.13039/100010269", "searchTerm": "Wellcome Trust" }, "stream": "Population and Public Health", "endDate": "2026-10-14", "grantId": "351995", "abstract": "Climate change is already intensifying health risks across Eastern Africa. The 2020–2022 Horn of Africa drought left more than 30 million people in Ethiopia, Kenya and Somalia facing drought-related food insecurity, and climate change is projected to cause 123 million additional malaria cases and 532,000 additional malaria deaths across Africa between 2024 and 2050. These risks intersect with climate-sensitive livelihoods, food and water insecurity, population mobility, fragile infrastructure and uneven adaptive capacity, increasing vulnerability across the region. However, Eastern Africa’s climate- health response remains constrained by a critical systems gap: fragmented research, weak cross-sector coordination, uneven technical capacity, limited community and policy engagement, and inadequate mechanisms for translating evidence into decisions and practice. This proposal development grant will address this gap by supporting the co-design of an African-led Climate and Health Science and Policy Consortium in Eastern Africa, led by Ifakara Health Institute. The grant will support country and stakeholder mapping, partner consultations, priority-setting, governance design, capacity strengthening, sustainability planning and collaborative proposal writing. The outcome will be a credible regional consortium capable of generating policy-relevant evidence, strengthening regional capacity, supporting evidence-informed decision-making and enabling practical climate-health action. Keywords: climate change; health; Eastern Africa; science-policy consortium; capacity strengthening.", "category": null, "currency": "GBP", "startDate": "2026-06-15", "abstractType": "scientific", "abstractLanguage": "en" }, "person": { "orcid": null, "title": "Dr", "initials": "HM", "givenName": "Honorati", "familyName": "Masanja" }, "institution": { "name": "Ifakara Health Institute", "rorId": "04js17g72", "department": null, "officialName": "Ifakara Health Institute" } }, { "grant": { "doi": null, "type": "Early-Career Award", "alias": [ "324519", "324519/Z/25/Z" ], "title": "Mechanisms of Emergence and Spread of Artemisinin and MultiDrug Resistance (AMRED) Malaria Parasites in West Africa", "amount": 1067792.92, "funder": { "name": "Wellcome Trust", "fundRefId": "https://doi.org/10.13039/100010269", "searchTerm": "Wellcome Trust" }, "stream": "Genetics and Genomics", "endDate": "2031-05-15", "grantId": "324519", "abstract": "The recent emergence and spread of artemisinin resistant Plasmodium falciparum parasites in Africa pose grave threats to control/elimination programs utilising artemisinin combination therapies (ACTs), the last stronghold for malaria treatments. Over 10 mutations in the parasite’s Kelch 13 gene, K13, have been associated with artemisinin resistance in Africa; particularly, West African parasites harbouring K13 resistant markers also show reduced ex vivo susceptibility to artemisinin. The typical high parasite transmission/recombination rates in West African parasites could rapidly expand these resistant markers on diverse genetic backgrounds, associated with multidrug resistance to partner drugs, and the former first-line treatments, chloroquine and sulphadoxine-pyrimethamine. We are not well equipped, and lack critical knowledge in the evolutionary mechanisms underlying the emergence/spread of these resistant markers, to forestall containment measures in West Africa; how do artemisinin- and multidrug resistant (AMRED) marker combinations influence heterogenous susceptibilities to ACTs in contemporary infections? This study aims to investigate these questions in Ghana, a low- high transmission setting, with ideal parasite populations that harbour resistance markers to most antimalarials. It will innovate genetic tools and approaches to unravel the complexity in resistance evolution and build local capacity in functional genetics studies to detect, track and stop artemisinin resistance.", "category": null, "currency": "GBP", "startDate": "2026-05-15", "abstractType": "scientific", "abstractLanguage": "en" }, "person": { "orcid": null, "title": "Dr", "initials": "CA", "givenName": "Charles", "familyName": "Narh" }, "institution": { "name": "University of Ghana", "rorId": "01r22mr83", "department": null, "officialName": "University of Ghana" } }, { "grant": { "doi": null, "type": "Fellowship", "alias": "UKRI3394", "title": "Advancing epidemiological methods for evaluation of malaria vaccine effectiveness and impact", "amount": 1848767, "funder": { "name": "Medical Research Council", "fundRefId": "https://doi.org/10.13039/501100000265", "searchTerm": "Medical Research Council" }, "stream": "MRC: Apr 2025: career development award", "endDate": null, "grantId": "UKRI3394", "abstract": "Each year, malaria kills nearly half a million children in sub-Sharan Africa. Currently, several effective malaria control interventions including chemoprevention and insecticide-treated nets are implemented across the region. Recently, World Health Organisation recommended the introduction of two novel malaria vaccines, administered in a four-dose schedule. The Malaria Vaccine Implementation Pilot study in Ghana, Kenya, and Malawi showed that coverage was relatively high for the first three doses(63-75%) among vaccine-eligible children, but only 40% received the fourth dose. As of 2025, seventeen countries have introduced these vaccines as part of their national childhood immunisation program using either age-based or pre-transmission season schedules. While many countries follow the four-dose regimen with or without malaria chemoprevention, others like Mali have opted for a five-dose schedule. Since the protective efficacy of these vaccines declines gradually over time; continuous monitoring is essential to optimise their long-term impact. This calls for methodological advancement to assess how the vaccines, in combination with other malaria interventions, perform when deployed at scale and their impact at the population level. This project aims to develop and evaluate novel epidemiological methods for measuring the effectiveness of malaria control interventions rapidly and cost-effectively. It will specifically measure the effectiveness and impact of the malaria vaccines implemented through national immunisation programs. The specific aims and objectives are: Aim 1: Develop and validate novel methods tor evaluate malaria vaccine effectiveness using a test-negative case-control design. 1.1 Replicate the efficacy of malaria vaccines, as reported in randomised controlled trials using a test-negative case-control study design applied to the clinical trial data. 1.2 To develop methods to detect, minimise, and quantify biases when estimating vaccine effectiveness using a test-negative design in routinely collected clinical data. Aim 2: Evaluate the effectiveness of malaria vaccines when delivered through the routine immunisation programs. 2.1 Measure the effectiveness of the malaria vaccines delivered through routine systems with or without chemoprevention, and assess how effectiveness varies with age-based versus season-based schedules, intervals between doses, and the use of seasonal malaria chemoprevention. 2.2 Assess the protection against clinical malaria provided by the fourth and fifth doses. Aim 3: Evaluate the population-level impact of malaria vaccines when implemented at scale through national immunisation programs. 3.1 Measure the impact of the malaria vaccination program on malaria burden, all-cause mortality, and uptake of other malaria interventions and childhood vaccines. 3.2 Adapt mathematical models to simulate the impact of the vaccination program on malaria burden, using vaccine effectiveness and coverage measured in routinely collected data. 3.3 Investigate the impact of climatic factors on the spatial and temporal distribution of malaria burden. The project will use existing clinical trial data collected over 15 years, Monte Carlo simulations, prospective studies in Burkina Faso, Guinea, and Mali, data from the routine surveillance system, and mathematical modelling. To support implementation of these methods, I and my team will develop user-friendly software tools and guidelines and establish a vaccine effectiveness consortium across several African countries. This work will inform optimum strategies for monitoring malaria vaccines effectiveness, and broader public heath impact. It will also help identify factors influencing vaccine effectiveness and impact, and generate evidence to guide policy decision on the best combinations of vaccination schedule and doses, ultimately improving health outcomes for children and maximising value for money. Furthermore, the methods can be applied to evaluate effectiveness of other vaccines.", "category": null, "currency": "GBP", "startDate": "2026-05-01", "abstractType": "scientific", "abstractLanguage": "en" }, "person": { "orcid": null, "title": null, "initials": "MA", "givenName": "M Sanni", "familyName": "Ali" }, "institution": { "name": "London School of Hygiene and Tropical Medicine", "rorId": "00a0jsq62", "department": null, "officialName": "London School of Hygiene & Tropical Medicine" } }, { "grant": { "doi": null, "type": "Career Development Award", "alias": [ "328051", "328051/Z/25/Z" ], "title": "Spatio-clinal distribution of Microsporidia MB and assessing thermal fitness of its transmission, modulation of Plasmodium refractoriness and its impact on the efficacy of malaria vectors control tools", "amount": 603989, "funder": { "name": "Wellcome Trust", "fundRefId": "https://doi.org/10.13039/100010269", "searchTerm": "Wellcome Trust" }, "stream": "Pathogen Biology and Disease Transmission", "endDate": "2031-03-31", "grantId": "328051", "abstract": "The discovery of Microsporidia MB (herafter MB), a promising biological agent which inhibits Plasmodium development in malaria vectors has opened another door for malaria control, which if properly exploited may prove as successful as Wolbachia and Bacillus thuringiensis, which are used worldwide for control of mosquito vectors. This is crucially important because, unlike chemical insecticides, biological control agents are more environmentally friendly and less susceptible to resistance. However, information about the frequency of MB in the major malaria vectors Anopheles gambiae s.s. and An. coluzzii is still lacking. Also, it remains to be known how environmental variables, such as temperature and humidity impact the fitness of MB in the field. This study aims to map the prevalence of MB along ecological gradients of increasing aridity, spanning Nigeria and Niger Republic, investigate the impact of temperature on MB survival and effectiveness in blocking Plasmodium transmission, and explore its potential modulation of insecticide resistance in malaria mosquitoes. By generating primary data on the environmental resilience of MB and its interaction with insecticides, this study will provide critical insights into the feasibility of sustainably integrating this biological agent into existing vector control programs, potentially revolutionizing malaria vector control in regions heavily affected.", "category": null, "currency": "GBP", "startDate": "2026-04-01", "abstractType": "scientific", "abstractLanguage": "en" }, "person": { "orcid": null, "title": "Dr", "initials": "L", "givenName": "Lamine", "familyName": "Mahaman Moustapha" }, "institution": { "name": "Université André Salifou", "rorId": null, "department": null, "officialName": null } }, { "grant": { "doi": null, "type": "Research Grant", "alias": "UKRI3658", "title": "MKP1 modulating host defence: pathogen-specific innate immune regulation", "amount": 1005469, "funder": { "name": "Medical Research Council", "fundRefId": "https://doi.org/10.13039/501100000265", "searchTerm": "Medical Research Council" }, "stream": "MRC: Apr 2025: research: infections and immunity: responsive mode", "endDate": null, "grantId": "UKRI3658", "abstract": "Mitogen-activated protein kinase (MAPK) phosphatase 1 (MKP1) plays a crucial role in the regulation of immune responses and the body’s defence mechanisms against infections. MKP1 is involved in modulating the activity of MAPKs, which are vital for transducing signals from microbial pathogens. During infection, MKP1 acts as a ‘regulatory brake’ on the inflammatory response, as excessive or prolonged inflammation can lead to tissue damage and chronic inflammatory diseases. MKP1 fine-tune’s this response by deactivating MAPKs, thereby reducing the production of pro-inflammatory cytokines. This action is critical for preventing tissue damage and promoting resolution of inflammation, demonstrating a dual role for MKP1 in infections acting as a critical modulator of the immune response. While the functional role of MKP1 has been studied in bacterial infections, no studies have investigated its role in fungal infections. Fungi kill ~2.5 million individuals each year, five times more than malaria or influenza, and are deadlier than most bacterial infections. Candida spp. cause ~1 million deaths from invasive/bloodstream infections and >150 million mucosal infections annually. As such, Candida infections are a serious medical problem and an immense burden to human health. Given this, the World health Organisation recently cited C. albicans in the ‘critical’ group (highest) in the ‘fungal priority pathogens’ list. Thus, identifying biological and immunological mechanisms that advance our understanding of C. albicans infection and lead to disease prevention is now a recognised priority. MKP1 is strongly activated in epithelial cells and neutrophils during C. albicans infection. Importantly, using a MKP1 knockout (KO) mouse, MKP1 deletion resulted in protection against mucosal and systemic C. albicans infection. These findings are in stark contrast to bacterial studies, where the MKP1 KO dramatically increases morbidity and mortality. This dichotomy between fungal and bacterial responses is highly intriguing and highlights the complexity of MKP1's role in immune regulation. Therefore, our objectives are twofold. First, to determine why MKP1 deletion is protective in fungal disease but detrimental in bacterial disease. Second, to determine the cell-type specific functional role of MKP1 in C. albicans infection, which will reveal new mechanisms by which fungal diseases outcome could be improved through targeted immunostimulatory therapy. The work will considerably enhance our understanding of immune regulation during fungal and bacterial infection and will identify new therapeutic opportunities that may arise from manipulating MKP1 pathways to improve microbial infection resolution, especially as adjunctive therapy during antimicrobial resistance. This work will have multiple academic beneficiaries in the fields of general and innate immunology, fungal and bacterial pathogenesis, cellular signalling, and host-pathogen interactions. An integral part of this research proposal involves the creation of conditional MKP1 knockout mouse models, which will create invaluable and powerful research tools that will enhance the impact and significance of this research proposal and be of considerable value to the wider scientific community (broader ranging infection studies, immunology, MAPK biology). In addition, this proposal has potential commercial beneficiaries, as our findings could be exploited at several levels in the longer term to improve human health and quality of life.", "category": null, "currency": "GBP", "startDate": "2026-02-03", "abstractType": "scientific", "abstractLanguage": "en" }, "person": { "orcid": null, "title": null, "initials": "JN", "givenName": "Julian", "familyName": "Naglik" }, "institution": { "name": "King's College London", "rorId": "ror.org/0220mzb33", "department": null, "officialName": null } }, { "grant": { "doi": null, "type": "Early-Career Award", "alias": "324238", "title": "Vertical and horizontal transmission mechanisms of a Plasmodium-blocking symbiont in Anopheles mosquitoes", "amount": 818363.49, "funder": { "name": "Wellcome Trust", "fundRefId": "https://doi.org/10.13039/100010269", "searchTerm": "Wellcome Trust" }, "stream": "Pathogen Biology and Disease Transmission", "endDate": "2031-01-31", "grantId": "324238", "abstract": "Microsporidia MB, a symbiont that inhibits Plasmodium transmission in An. arabiensis, has the potential to be developed into a transformative symbiont- based malaria control strategy. It spreads naturally through vector populations via vertical (mother-to-offspring) and horizontal (sexual) transmission. However, our previous research has demonstrated inefficiencies in these transmission routes, which can limit its application as a malaria control tool. In the proposed study, the mechanistic basis of variations in vertical transmission rates will be investigated by determining symbiont infection dynamics across mosquito developmental stages. Also, horizontal transmission mechanisms will be assessed by determining how Microsporidia MB is transmitted during mating. To achieve these aims, high-resolution microscopy imaging will be applied to track Microsporidia MB’s interaction with An. arabiensis at the tissue and cellular level. Host and symbiont factors mediating or inhibiting symbiont colonization and transmission will be investigated using gene expression studies while symbiont transmission efficiencies will be assessed using experimental bioassays. Understanding vertical and horizontal transmission mechanisms and efficiencies of Microsporidia MB will establish the stability of Microsporidia MB infections, determine the specificity of host-symbiont interactions, and establish transmission bottlenecks. This knowledge will be the foundation for developing optimized Microsporidia MB-Anopheles symbioses for deployment as a novel malaria control strategy.", "category": null, "currency": "GBP", "startDate": "2026-02-01", "abstractType": "scientific", "abstractLanguage": "en" }, "person": { "orcid": null, "title": "Dr", "initials": "TO", "givenName": "Thomas", "familyName": "Onchuru" }, "institution": { "name": "International Centre of Insect Physiology and Ecology", "rorId": "03qegss47", "department": null, "officialName": "International Centre of Insect Physiology and Ecology" } } ], "limit": 25, "query": "malaria", "total": 1683, "hasMore": true, "nextPage": 2, "provider": "europepmc", "resultType": "core" } ``` --- ### Labs Links External provider links (Altmetric, Publons, BioStudies, Faculty Opinions …) for one Europe PMC record. Upstream returns the whole provider set in one call. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/labs-links` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `id` | string | query | yes | Article identifier within the source — a PMID for MED, a PMCID for PMC | | `source` | enum(MED|PMC|PPR|AGR|CBA|CTX|ETH|HIR|PAT|NBK) | query | no | Source archive the id belongs to. Default MED | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/labs-links?id=33301246&source=MED" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/labs-links?id=33301246&source=MED", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/labs-links?id=33301246&source=MED", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "id": "33301246", "count": 4, "items": [ { "name": "Publons", "links": [ { "url": "https://publons.com/p/35654943/", "title": "Read 1 peer review on Publons", "imageUrl": null }, { "url": "https://publons.com/review/create/post/35654943/", "title": "Add a post publication review on Publons", "imageUrl": null } ], "frontTab": false, "linksCount": 2, "providerId": 1529, "description": "Our mission is to speed up science by working with peer reviewers, publishers, and research institutions to make peer review a rewarding activity." }, { "name": "BioStudies: supplemental material and supporting data", "links": [ { "url": "http://www.ebi.ac.uk/biostudies/studies/S-EPMC7745181?xr=true", "title": "Safety and Efficacy of the BNT162b2 mRNA Covid-19 Vaccine.", "imageUrl": null } ], "frontTab": false, "linksCount": 1, "providerId": 1518, "description": "Database of biological studies" }, { "name": "Altmetric", "links": [ { "url": "https://www.altmetric.com/details/95765100", "title": "Safety and Efficacy of the BNT162b2 mRNA Covid-19 Vaccine", "imageUrl": "https://api.altmetric.com/v1/donut/95765100_64.png" }, { "url": "https://www.altmetric.com/details/130496611", "title": "Effectiveness of BNT162b2 vaccine against SARS-CoV-2 infection and severe COVID-19 in children aged 5–11 years in Italy: a retrospective analysis of January–April, 2022", "imageUrl": "https://api.altmetric.com/v1/donut/130496611_64.png" } ], "frontTab": false, "linksCount": 2, "providerId": 1562, "description": "Discover the attention surrounding your research" }, { "name": "Faculty Opinions", "links": [ { "url": "https://connect.h1.co/prime/739182803#eval793581854", "title": "Faculty Opinions recommendation of Safety and Efficacy of the BNT162b2 mRNA Covid-19 Vaccine.", "imageUrl": null } ], "frontTab": false, "linksCount": 1, "providerId": 1837, "description": "Expert Recommended Research Articles" } ], "source": "MED", "provider": "europepmc" } ``` --- ### Profile Hit counts for one query, faceted by source, publication type and subset — the cheapest way to size a search before paging it. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/profile` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `query` | string | query | yes | Search terms, same grammar as the search endpoint | | `synonym` | enum(true|false) | query | no | Expand the query with MeSH and UniProt synonyms. Default false | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/profile?query=malaria&synonym=false" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/profile?query=malaria&synonym=false", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/profile?query=malaria&synonym=false", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "count": 15, "items": [ { "name": "AGR", "count": 489, "group": "source" }, { "name": "CBA", "count": 117, "group": "source" }, { "name": "CTX", "count": 9, "group": "source" }, { "name": "ETH", "count": 1024, "group": "source" }, { "name": "HIR", "count": 4, "group": "source" }, { "name": "MED", "count": 254752, "group": "source" }, { "name": "PAT", "count": 2254, "group": "source" }, { "name": "CIT", "count": 0, "group": "source" } ], "query": "malaria", "provider": "europepmc" } ``` --- ### References The reference list of one Europe PMC record. Upstream pages by offset, not cursor. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/references` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `id` | string | query | yes | Article identifier within the source — a PMID for MED, a PMCID for PMC | | `source` | enum(MED|PMC|PPR|AGR|CBA|CTX|ETH|HIR|PAT|NBK) | query | no | Source archive the id belongs to. Default MED | | `page` | number | query | no | Page number. Default 1 | | `limit` | number | query | no | Items per page. Default 25, max 100 | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/references?id=33301246&source=MED&page=1&limit=25" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/references?id=33301246&source=MED&page=1&limit=25", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/references?id=33301246&source=MED&page=1&limit=25", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "id": "33301246", "page": 1, "count": 3, "items": [ { "id": "18797453", "doi": null, "essn": "1525-0024", "issn": "1525-0016", "issue": "11", "title": "Incorporation of pseudouridine into mRNA yields superior nonimmunogenic vector with increased translational capacity and biological stability.", "source": "MED", "volume": "16", "matched": true, "pubYear": 2008, "pageInfo": "1833-1840", "citedOrder": 1, "authorString": "Kariko K, Muramatsu H, Welsh FA, Ludwig J, Kato H, Akira S, Weissman D.", "citationType": "JOURNAL ARTICLE", "externalLink": null, "journalAbbreviation": "Mol Ther", "unstructuredInformation": null }, { "id": "31828291", "doi": null, "essn": "1537-6591", "issn": "1058-4838", "issue": "7", "title": "Comparative Immunogenicity of Several Enhanced Influenza Vaccine Options for Older Adults: A Randomized, Controlled Trial.", "source": "MED", "volume": "71", "matched": true, "pubYear": 2020, "pageInfo": "1704-1714", "citedOrder": 2, "authorString": "Cowling BJ, Perera RAPM, Valkenburg SA, Leung NHL, Iuliano AD, Tam YH, Wong JHF, Fang VJ, Li APY, So HC, Ip DKM, Azziz-Baumgartner E, Fry AM, Levine MZ, Gangappa S, Sambhara S, Barr IG, Skowronski DM, Peiris JSM, Thompson MG.", "citationType": "JOURNAL ARTICLE", "externalLink": null, "journalAbbreviation": "Clin Infect Dis", "unstructuredInformation": null }, { "id": "33053279", "doi": null, "essn": "1533-4406", "issn": "0028-4793", "issue": "25", "title": "Safety and Immunogenicity of Two RNA-Based Covid-19 Vaccine Candidates.", "source": "MED", "volume": "383", "matched": true, "pubYear": 2020, "pageInfo": "2439-2450", "citedOrder": 3, "authorString": "Walsh EE, Frenck RW Jr, Falsey AR, Kitchin N, Absalon J, Gurtman A, Lockhart S, Neuzil K, Mulligan MJ, Bailey R, Swanson KA, Li P, Koury K, Kalina W, Cooper D, Fontes-Garfias C, Shi PY, Tureci O, Tompkins KR, Lyke KE, Raabe V, Dormitzer PR, Jansen KU, Sahin U, Gruber WC.", "citationType": "JOURNAL ARTICLE", "externalLink": null, "journalAbbreviation": "N Engl J Med", "unstructuredInformation": null } ], "limit": 3, "total": 7, "source": "MED", "hasMore": true, "nextPage": 2, "provider": "europepmc" } ``` --- ### Search Post Europe PMC searchPOST — the same index as `search`, reached with a form body so a query too long for a URL still fits. Same cursor-walk pagination, same envelope. - **Method:** `POST` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/search-post` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `query` | string | body | yes | Search terms. Supports the field grammar SRC:, EXT_ID:, DOI:, PUB_YEAR:, AUTHORID:, JOURNAL:, AFF:, GRANT_AGENCY:, HAS_FT:, OPEN_ACCESS:, LICENSE: | | `resultType` | enum(idlist|lite|core) | body | no | Field depth per record. Default lite, core carries all 48 fields | | `page` | number | body | no | Page number. Default 1, max 10 — pass cursor for anything deeper | | `cursor` | string | body | no | Cursor for unbounded deep paging. Start with * then pass nextCursor. Overrides page | | `limit` | number | body | no | Items per page. Default 25, max 100 | | `sort` | enum(relevance|dateAsc|dateDesc|citedAsc|citedDesc|author|title) | body | no | Sort order. Default relevance | | `synonym` | enum(true|false) | body | no | Expand the query with MeSH and UniProt synonyms. Default false | **cURL:** ```bash curl -X POST "https://api.zpi.web.id/v1/research:europepmc/search-post" \ -H "x-api-key: YOUR_API_KEY" \ -H "Content-Type: application/json" \ -d '{ "query": "SRC:MED AND PUB_YEAR:2020 AND malaria", "resultType": "lite", "page": "1", "cursor": "*", "limit": "25", "sort": "citedDesc", "synonym": "false" }' ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/search-post", { method: "POST", headers: { "x-api-key": process.env.ZAPI_KEY, "Content-Type": "application/json" }, body: JSON.stringify({ "query": "SRC:MED AND PUB_YEAR:2020 AND malaria", "resultType": "lite", "page": "1", "cursor": "*", "limit": "25", "sort": "citedDesc", "synonym": "false" }) }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.post("https://api.zpi.web.id/v1/research:europepmc/search-post", headers={"x-api-key": "YOUR_API_KEY"}, json={ "query": "SRC:MED AND PUB_YEAR:2020 AND malaria", "resultType": "lite", "page": "1", "cursor": "*", "limit": "25", "sort": "citedDesc", "synonym": "false" }) data = r.json() ``` **Example response:** ```json { "page": null, "count": 3, "items": [ { "id": "33069326", "doi": "10.1016/s0140-6736(20)30925-9", "pmid": "33069326", "inPMC": true, "pmcid": "PMC7567026", "title": "Global burden of 369 diseases and injuries in 204 countries and territories, 1990-2019: a systematic analysis for the Global Burden of Disease Study 2019.", "hasPDF": false, "inEPMC": true, "source": "MED", "authMan": null, "hasBook": false, "hasData": null, "license": null, "pubYear": 2020, "abstract": null, "hasSuppl": true, "language": null, "pageInfo": "1204-1222", "pubModel": null, "pubTypes": [ "research-article; journal article" ], "nihAuthMan": null, "affiliation": null, "epmcAuthMan": null, "fullTextIds": [ "PMC7567026" ], "journalInfo": { "issue": "10258", "volume": "396", "journal": { "essn": null, "issn": "0140-6736; 1474-547x; ", "nlmId": null, "title": "Lancet", "isoAbbreviation": null, "medlineAbbreviation": null }, "journalIssueId": null, "dateOfPublication": null, "yearOfPublication": null, "monthOfPublication": null, "printPublicationDate": null }, "authorString": "GBD 2019 Diseases and Injuries Collaborators.", "citedByCount": 14449, "hasLabsLinks": true, "isOpenAccess": true, "hasReferences": true, "dateOfCreation": null, "dateOfRevision": null, "firstIndexDate": "2020-10-20", "hasEvaluations": null, "dateOfCompletion": null, "tmAccessionTypes": [ "doi" ], "hasTextMinedTerms": true, "publicationStatus": null, "firstPublicationDate": "2020-10-01", "fullTextReceivedDate": null, "hasDbCrossReferences": false, "hasTMAccessionNumbers": true, "electronicPublicationDate": null }, { "id": "32029601", "doi": "10.1126/science.aau6977", "pmid": "32029601", "inPMC": true, "pmcid": "PMC7717626", "title": "The biology, function, and biomedical applications of exosomes.", "hasPDF": true, "inEPMC": true, "source": "MED", "authMan": null, "hasBook": false, "hasData": null, "license": null, "pubYear": 2020, "abstract": null, "hasSuppl": false, "language": null, "pageInfo": "eaau6977", "pubModel": null, "pubTypes": [ "research support, non-u.s. gov't; research-article; review; journal article; research support, n.i.h., extramural" ], "nihAuthMan": null, "affiliation": null, "epmcAuthMan": null, "fullTextIds": [ "PMC7717626" ], "journalInfo": { "issue": "6478", "volume": "367", "journal": { "essn": null, "issn": "0036-8075; 1095-9203; ", "nlmId": null, "title": "Science", "isoAbbreviation": null, "medlineAbbreviation": null }, "journalIssueId": null, "dateOfPublication": null, "yearOfPublication": null, "monthOfPublication": null, "printPublicationDate": null }, "authorString": "Kalluri R, LeBleu VS.", "citedByCount": 8274, "hasLabsLinks": true, "isOpenAccess": false, "hasReferences": true, "dateOfCreation": null, "dateOfRevision": null, "firstIndexDate": "2020-02-09", "hasEvaluations": null, "dateOfCompletion": null, "tmAccessionTypes": [ "nct", "doi" ], "hasTextMinedTerms": true, "publicationStatus": null, "firstPublicationDate": "2020-02-01", "fullTextReceivedDate": null, "hasDbCrossReferences": false, "hasTMAccessionNumbers": true, "electronicPublicationDate": null }, { "id": "32738937", "doi": "10.1016/s0140-6736(20)30367-6", "pmid": "32738937", "inPMC": true, "pmcid": "PMC7392084", "title": "Dementia prevention, intervention, and care: 2020 report of the Lancet Commission.", "hasPDF": true, "inEPMC": true, "source": "MED", "authMan": null, "hasBook": false, "hasData": null, "license": null, "pubYear": 2020, "abstract": null, "hasSuppl": true, "language": null, "pageInfo": "413-446", "pubModel": null, "pubTypes": [ "review-article; review; journal article" ], "nihAuthMan": null, "affiliation": null, "epmcAuthMan": null, "fullTextIds": [ "PMC7392084" ], "journalInfo": { "issue": "10248", "volume": "396", "journal": { "essn": null, "issn": "0140-6736; 1474-547x; ", "nlmId": null, "title": "Lancet", "isoAbbreviation": null, "medlineAbbreviation": null }, "journalIssueId": null, "dateOfPublication": null, "yearOfPublication": null, "monthOfPublication": null, "printPublicationDate": null }, "authorString": "Livingston G, Huntley J, Sommerlad A, Ames D, Ballard C, Banerjee S, Brayne C, Burns A, Cohen-Mansfield J, Cooper C, Costafreda SG, Dias A, Fox N, Gitlin LN, Howard R, Kales HC, Kivimäki M, Larson EB, Ogunniyi A, Orgeta V, Ritchie K, Rockwood K, Sampson EL, Samus Q, Schneider LS, Selbæk G, Teri L, Mukadam N.", "citedByCount": 7936, "hasLabsLinks": true, "isOpenAccess": true, "hasReferences": true, "dateOfCreation": null, "dateOfRevision": null, "firstIndexDate": "2020-08-09", "hasEvaluations": null, "dateOfCompletion": null, "tmAccessionTypes": [ "doi" ], "hasTextMinedTerms": true, "publicationStatus": null, "firstPublicationDate": "2020-07-30", "fullTextReceivedDate": null, "hasDbCrossReferences": false, "hasTMAccessionNumbers": true, "electronicPublicationDate": null } ], "limit": 3, "query": "SRC:MED AND PUB_YEAR:2020 AND malaria", "total": 13355, "hasMore": true, "nextPage": null, "provider": "europepmc", "nextCursor": "AoJQ8AMoNDIwMTUxNDc=", "resultType": "lite" } ``` --- ### Search Europe PMC REST search — open JSON, no key, rung 1 (direct) per recon. Measured 2026-08-29: upstream ignores `page` and paginates by cursorMark alone, so a - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/search` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `query` | string | query | yes | Search terms. Supports the field grammar SRC:, EXT_ID:, DOI:, PUB_YEAR:, AUTHORID:, JOURNAL:, AFF:, GRANT_AGENCY:, HAS_FT:, OPEN_ACCESS:, LICENSE: | | `resultType` | enum(idlist|lite|core) | query | no | Field depth per record. Default lite, core carries all 48 fields | | `page` | number | query | no | Page number. Default 1, max 10 — pass cursor for anything deeper | | `cursor` | string | query | no | Cursor for unbounded deep paging. Start with * then pass nextCursor. Overrides page | | `limit` | number | query | no | Items per page. Default 25, max 100 | | `sort` | enum(relevance|dateAsc|dateDesc|citedAsc|citedDesc|author|title) | query | no | Sort order. Default relevance | | `synonym` | enum(true|false) | query | no | Expand the query with MeSH and UniProt synonyms. Default false | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/search?query=SRC%3AMED%20AND%20PUB_YEAR%3A2020%20AND%20malaria&resultType=lite&page=1&cursor=*&limit=25&sort=citedDesc&synonym=false" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/search?query=SRC%3AMED%20AND%20PUB_YEAR%3A2020%20AND%20malaria&resultType=lite&page=1&cursor=*&limit=25&sort=citedDesc&synonym=false", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/search?query=SRC%3AMED%20AND%20PUB_YEAR%3A2020%20AND%20malaria&resultType=lite&page=1&cursor=*&limit=25&sort=citedDesc&synonym=false", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "page": null, "count": 3, "items": [ { "id": "33069326", "doi": "10.1016/s0140-6736(20)30925-9", "pmid": "33069326", "inPMC": true, "pmcid": "PMC7567026", "title": "Global burden of 369 diseases and injuries in 204 countries and territories, 1990-2019: a systematic analysis for the Global Burden of Disease Study 2019.", "hasPDF": false, "inEPMC": true, "source": "MED", "authMan": null, "hasBook": false, "hasData": null, "license": null, "pubYear": 2020, "abstract": null, "hasSuppl": true, "language": null, "pageInfo": "1204-1222", "pubModel": null, "pubTypes": [ "research-article; journal article" ], "nihAuthMan": null, "affiliation": null, "epmcAuthMan": null, "fullTextIds": [ "PMC7567026" ], "journalInfo": { "issue": "10258", "volume": "396", "journal": { "essn": null, "issn": "0140-6736; 1474-547x; ", "nlmId": null, "title": "Lancet", "isoAbbreviation": null, "medlineAbbreviation": null }, "journalIssueId": null, "dateOfPublication": null, "yearOfPublication": null, "monthOfPublication": null, "printPublicationDate": null }, "authorString": "GBD 2019 Diseases and Injuries Collaborators.", "citedByCount": 14449, "hasLabsLinks": true, "isOpenAccess": true, "hasReferences": true, "dateOfCreation": null, "dateOfRevision": null, "firstIndexDate": "2020-10-20", "hasEvaluations": null, "dateOfCompletion": null, "tmAccessionTypes": [ "doi" ], "hasTextMinedTerms": true, "publicationStatus": null, "firstPublicationDate": "2020-10-01", "fullTextReceivedDate": null, "hasDbCrossReferences": false, "hasTMAccessionNumbers": true, "electronicPublicationDate": null }, { "id": "32029601", "doi": "10.1126/science.aau6977", "pmid": "32029601", "inPMC": true, "pmcid": "PMC7717626", "title": "The biology, function, and biomedical applications of exosomes.", "hasPDF": true, "inEPMC": true, "source": "MED", "authMan": null, "hasBook": false, "hasData": null, "license": null, "pubYear": 2020, "abstract": null, "hasSuppl": false, "language": null, "pageInfo": "eaau6977", "pubModel": null, "pubTypes": [ "research support, non-u.s. gov't; research-article; review; journal article; research support, n.i.h., extramural" ], "nihAuthMan": null, "affiliation": null, "epmcAuthMan": null, "fullTextIds": [ "PMC7717626" ], "journalInfo": { "issue": "6478", "volume": "367", "journal": { "essn": null, "issn": "0036-8075; 1095-9203; ", "nlmId": null, "title": "Science", "isoAbbreviation": null, "medlineAbbreviation": null }, "journalIssueId": null, "dateOfPublication": null, "yearOfPublication": null, "monthOfPublication": null, "printPublicationDate": null }, "authorString": "Kalluri R, LeBleu VS.", "citedByCount": 8274, "hasLabsLinks": true, "isOpenAccess": false, "hasReferences": true, "dateOfCreation": null, "dateOfRevision": null, "firstIndexDate": "2020-02-09", "hasEvaluations": null, "dateOfCompletion": null, "tmAccessionTypes": [ "nct", "doi" ], "hasTextMinedTerms": true, "publicationStatus": null, "firstPublicationDate": "2020-02-01", "fullTextReceivedDate": null, "hasDbCrossReferences": false, "hasTMAccessionNumbers": true, "electronicPublicationDate": null }, { "id": "32738937", "doi": "10.1016/s0140-6736(20)30367-6", "pmid": "32738937", "inPMC": true, "pmcid": "PMC7392084", "title": "Dementia prevention, intervention, and care: 2020 report of the Lancet Commission.", "hasPDF": true, "inEPMC": true, "source": "MED", "authMan": null, "hasBook": false, "hasData": null, "license": null, "pubYear": 2020, "abstract": null, "hasSuppl": true, "language": null, "pageInfo": "413-446", "pubModel": null, "pubTypes": [ "review-article; review; journal article" ], "nihAuthMan": null, "affiliation": null, "epmcAuthMan": null, "fullTextIds": [ "PMC7392084" ], "journalInfo": { "issue": "10248", "volume": "396", "journal": { "essn": null, "issn": "0140-6736; 1474-547x; ", "nlmId": null, "title": "Lancet", "isoAbbreviation": null, "medlineAbbreviation": null }, "journalIssueId": null, "dateOfPublication": null, "yearOfPublication": null, "monthOfPublication": null, "printPublicationDate": null }, "authorString": "Livingston G, Huntley J, Sommerlad A, Ames D, Ballard C, Banerjee S, Brayne C, Burns A, Cohen-Mansfield J, Cooper C, Costafreda SG, Dias A, Fox N, Gitlin LN, Howard R, Kales HC, Kivimäki M, Larson EB, Ogunniyi A, Orgeta V, Ritchie K, Rockwood K, Sampson EL, Samus Q, Schneider LS, Selbæk G, Teri L, Mukadam N.", "citedByCount": 7936, "hasLabsLinks": true, "isOpenAccess": true, "hasReferences": true, "dateOfCreation": null, "dateOfRevision": null, "firstIndexDate": "2020-08-09", "hasEvaluations": null, "dateOfCompletion": null, "tmAccessionTypes": [ "doi" ], "hasTextMinedTerms": true, "publicationStatus": null, "firstPublicationDate": "2020-07-30", "fullTextReceivedDate": null, "hasDbCrossReferences": false, "hasTMAccessionNumbers": true, "electronicPublicationDate": null } ], "limit": 3, "query": "SRC:MED AND PUB_YEAR:2020 AND malaria", "total": 13355, "hasMore": true, "nextPage": null, "provider": "europepmc", "nextCursor": "AoJQ8AMoNDIwMTUxNDc=", "resultType": "lite" } ``` --- ### Supplementary Files The supplementary-material archive for one PMC record. Upstream serves application/zip, so the handler resolves and sizes it and hands back the URL. - **Method:** `GET` - **Endpoint:** `https://api.zpi.web.id/v1/research:europepmc/supplementary-files` - **Cache TTL:** 300s **Parameters:** | Name | Type | Location | Required | Description | |------|------|----------|----------|-------------| | `pmcid` | string | query | yes | PMC identifier of an article with supplementary material | **cURL:** ```bash curl "https://api.zpi.web.id/v1/research:europepmc/supplementary-files?pmcid=PMC7654321" \ -H "x-api-key: YOUR_API_KEY" ``` **JavaScript / TypeScript:** ```javascript const res = await fetch("https://api.zpi.web.id/v1/research:europepmc/supplementary-files?pmcid=PMC7654321", { headers: { "x-api-key": process.env.ZAPI_KEY } }); const data = await res.json(); ``` **Python:** ```python import requests r = requests.get("https://api.zpi.web.id/v1/research:europepmc/supplementary-files?pmcid=PMC7654321", headers={"x-api-key": "YOUR_API_KEY"}) data = r.json() ``` **Example response:** ```json { "id": "PMC7654321", "url": "https://www.ebi.ac.uk/europepmc/webservices/rest/PMC7654321/supplementaryFiles", "bytes": 100956, "format": "zip", "source": "PMC", "complete": true, "filename": "PMC7654321_SupplementaryFiles.zip", "provider": "europepmc" } ``` --- _Generated: 2026-08-30T04:58:55.682Z_