{"orpha":664416,"name":"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664416/","orphanet_url":"https://www.orpha.net/en/disease/detail/664416","names":{"fr":{"name":"Syndrome d'anomalies cérébrales-retard du développement sévère-dysmorphie faciale-déficience intellectuelle dû à une mutation de MEF2C"},"de":{"name":"Hirnanomalien-schwere Entwicklungsverzögerung-Gesichtsdysmorphien-Intelligenzminderung-Syndrom durch MEF2C-Genmutation"},"es":{"name":"Síndrome de anomalías cerebrales-retraso grave del desarrollo-dismorfia facial-discapacidad intelectual por mutación en el gen MEF2C"},"it":{"name":"Sindrome anomalie cerebrali-grave ritardo dello sviluppo-dismorfismi facciali-disabilità intellettiva da mutazione di MEF2C"},"nl":{"name":"Hersenafwijkingen - ernstige ontwikkelingsachterstand - faciale dysmorfie - intellectuele achterstand-syndroom door MEF2C-mutatie"},"pt":{"name":"Síndrome de anomalias cerebrais-perturbação grave do desenvolvimento-dismorfia facial-perturbação do desenvolvimento intelectual devido a mutação em MEF2C"},"pl":{"name":"Zespół z wadami mózgu, ciężkim opóźnieniem rozwoju, dysmorfią twarzy i niepełnosprawnością intelektualną spowodowany mutacją w genie MEF2C"},"cs":{"name":"Syndrom způsobený mutací MEF2C zahrnující abnormality mozku, těžké vývojové opoždění, faciální dysmorfii a intelektovou nedostatečnost"},"uk":{"name":"Синдром аномалій головного мозку-тяжкої затримки розвитку дизморфізму обличчя- інтелектуальної недостатності, зумовлений мутацією MEF2C"}},"xrefs":[{"source":"OMIM","code":"613443","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0975751","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925059","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":664410,"name":"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"MEF2C","name":"myocyte enhancer factor 2C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23389741[PMID]","hgnc":"6996","ensembl":"ENSG00000081189","omim":"600662","loci":["5q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}