{"orpha":466950,"name":"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Desanto-Shinawi syndrome due to WAC point mutation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-466950/","orphanet_url":"https://www.orpha.net/en/disease/detail/466950","names":{"fr":{"name":"Syndrome de dysmorphie faciale-retard de développement-troubles du comportement dû à une mutation ponctuelle de WAC","synonyms":["Syndrome Desanto-Shinawi dû à une mutation ponctuelle de WAC"]},"de":{"name":"Gesichtsdysmorphie-Entwicklungsverzögerung-Verhaltensstörungen-Syndrom durch Punktmutation im WAC-Gen"},"es":{"name":"Síndrome de dismorfia facial-retraso del desarrollo-trastornos de conducta por una mutación puntual en el gen WAC"},"it":{"name":"Sindrome dismorfismi facciali - ritardo dello sviluppo - anomalie del comportamento da mutazione di WAC"},"nl":{"name":"Faciale dysmorfie - ontwikkelingsachterstand - gedragsstoornissen-syndroom door puntmutatie in WAC"},"pt":{"name":"Síndrome de dismorfia facial-perturbação do desenvolvimento-perturbações do comportamento devidas a mutação pontual em WAC"},"pl":{"name":"Zespół dysmorfii twarzy, opóźnienia w rozwoju i zaburzeń zachowania spowodowany mutacją WAC","synonyms":["Desanto-Shinawi syndrome due to WAC point mutation"]},"cs":{"name":"Faciální dysmorfismus, opoždění vývoje a poruchy chování v důsledku bodové mutace v genu WAC","synonyms":["Desanto-Shinawi syndrome due to WAC point mutation"]},"uk":{"name":"Синдром дисморфізму обличчя-затримки розвитку-поведінкових аномалій, зумовлений точковими мутаціями WAC","synonyms":["Синдром Десанто-Шинаві внаслідок мутації точки WAC"]},"zh":{"name":"WAC突变引起的面部畸形-发育迟缓-行为异常综合征"},"tr":{"name":"WAC nokta mutasyonuna bağlı yüz dismorfizmi-gelişme geriliği-davranışsal anormallikler sendromu"}},"xrefs":[{"source":"OMIM","code":"616708","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014741","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681129","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":466943,"name":"WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"WAC","name":"WW domain containing adaptor with coiled-coil","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26264232[PMID]","hgnc":"17327","ensembl":"ENSG00000095787","omim":"615049","loci":["10p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"27119754[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27119754[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-17","source":"29190062[PMID]_26264232[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent 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