{"orpha":662169,"name":"Phelan-McDermid syndrome due to 22q13.3 deletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["22q13.3 deletion","Chromosome 22q13.3 deletion syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-662169/","orphanet_url":"https://www.orpha.net/en/disease/detail/662169","names":{"fr":{"name":"Syndrome de Phelan-McDermid dû à une deletion 22q13.3","synonyms":["Délétion 22q13.3","Monosomie 22q13.3"]},"de":{"name":"Phelan-McDermid-Syndrom durch 22q13-Deletion"},"es":{"name":"Síndrome de Phelan-McDermid por deleción 22q13"},"it":{"name":"Sindrome di Phelan-McDermid da delezione 22q13"},"nl":{"name":"Syndroom van Phelan-McDermid door 22q13-deletie"},"pt":{"name":"Síndrome Phelan-McDermid por deleção 22q13.3"},"pl":{"name":"Zespół Phelan-McDermid wskutek delecji 22q13","synonyms":["22q13.3 deletion","Chromosome 22q13.3 deletion syndrome"]},"cs":{"name":"Phelan-McDermidové syndrom způsobený delecí 22q13.3","synonyms":["Phelanové-McDermidové syndrom způsobený delecí 22q13.3"]},"uk":{"name":"Синдром Фелана-Макдерміда, зумовлений делецією 22q13.3","synonyms":["Делеція 22q13.3","Синдром делеції хромосоми 22q13.3"]}},"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":"0971068","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853490","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262182,"name":"Partial deletion of the long arm of chromosome 22 syndrome","classifications":[147,156]},{"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":"Role in the phenotype of","status":"Assessed","source":"21841781[PMID]","hgnc":"14294","ensembl":"ENSG00000251322","omim":"606230","loci":["22q13.33"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}