{"orpha":662172,"name":"Phelan-McDermid syndrome due to SHANK3 mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-662172/","orphanet_url":"https://www.orpha.net/en/disease/detail/662172","names":{"fr":{"name":"Syndrome de Phelan-McDermid lié à une mutation de SHANK3"},"de":{"name":"Phelan-McDermid-Syndrom durch SHANK3-Mutation"},"es":{"name":"Síndrome de Phelan-McDermid por una mutación en el gen SHANK3"},"it":{"name":"Sindrome di Phelan-McDermid da mutazione di SHANK3"},"nl":{"name":"Syndroom van Phelan-McDermid door SHANK3-mutatie"},"pt":{"name":"Síndrome Phelan-McDermid por mutação em SHANK3"},"pl":{"name":"Zespół Phelan-McDermid wskutek mutacji SHANK3"},"cs":{"name":"Phelan-McDermidové syndrom způsobený mutací SHANK3","synonyms":["Phelanové-McDermidové syndrom způsobený mutací SHANK3"]},"uk":{"name":"Синдром Фелана-Макдерміда, зумовлений мутацією SHANK3"}},"xrefs":[{"source":"OMIM","code":"606232","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.NY","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0971069","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925128","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":48652,"name":"Phelan-McDermid syndrome","classifications":[147,156,181,187,198]}],"children":[],"genes":[{"symbol":"SHANK3","name":"SH3 and multiple ankyrin repeat domains 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30537371[PMID]_20385823[PMID]","hgnc":"14294","ensembl":"ENSG00000251322","omim":"606230","loci":["22q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}