{"orpha":664410,"name":"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MEF2C-related syndrome","Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664410/","orphanet_url":"https://www.orpha.net/en/disease/detail/664410","names":{"fr":{"name":"Syndrome d'anomalies cérébrales-retard sévère du développement-dysmorphie faciale-déficience intellectuelle","synonyms":["Syndrome lié à MEF2C"]},"de":{"name":"Hirnanomalien-schwere Entwicklungsverzögerung-Gesichtsdysmorphien-Intelligenzminderung-Syndrom","synonyms":["MEF2C-assoziiertes Syndrom","NEDHSIL","Neurologische Entwicklungsstörung mit Hypotonie, stereotypen Handbewegungen und Sprachstörungen"]},"es":{"name":"Síndrome de anomalías cerebrales-retraso grave del desarrollo-dismorfia facial-discapacidad intelectual","synonyms":["Síndrome asociado al gen MEF2C","Trastorno del neurodesarrollo-hipotonía-movimientos estereotipados de las manos-afectación del lenguaje","Trastorno del neurodesarrollo-hipotonía-movimientos estereotipados de las manos-trastorno del lenguaje"]},"it":{"name":"Sindrome anomalie cerebrali-grave ritardo dello sviluppo-dismorfismi facciali-disabilità intellettiva","synonyms":["Malattia del neurosviluppo-ipotonia-movimenti stereotipati delle mani-deficit del linguaggio","Sindrome correlata a MEF2C"]},"nl":{"name":"Hersenafwijkingen - ernstige ontwikkelingsachterstand - faciale dysmorfie - intellectuele achterstand-syndroom","synonyms":["MEF2C-gerelateerd syndroom","Neurologische ontwikkelingsstoornis - hypotonie - stereotiepe handbewegingen - taalstoornis"]},"pt":{"name":"Síndrome de anomalias cerebrais-perturbação grave do desenvolvimento-dismorfia facial-perturbação do desenvolvimento intelectual","synonyms":["Doença do neurodesenvolvimento-hipotonia-movimentos estereotipados das mãos-perturbação da linguagem","Síndrome MEF2C-relacionada"]},"pl":{"name":"Zespół z wadami mózgu, ciężkim opóźnieniem rozwoju, dysmorfią twarzy i niepełnosprawnością intelektualną","synonyms":["MEF2C-related syndrome","Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language"]},"cs":{"name":"Syndrom zahrnující abnormality mozku, těžké vývojové opoždění, faciální dysmorfii a intelektovou nedostatečnost","synonyms":["MEF2C-related syndrome","Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language"]},"uk":{"name":"Синдром аномалій головного мозку-тяжкої затримки розвитку-дизморфізму обличчя- інтелектуальної недостатності","synonyms":["Синдром, повязаний з MEF2C","Порушення нейророзвитку - гіпотонія - стереотипні рухи рук - порушення мови"]}},"xrefs":[{"source":"OMIM","code":"613443","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"13266","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150700","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[{"orpha":228384,"name":"5q14.3 microdeletion syndrome","type":"Etiological subtype"},{"orpha":664416,"name":"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":664416,"name":"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation"}},{"symbol":"MEF2C","name":"myocyte enhancer factor 2C","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20513142[PMID]","hgnc":"6996","ensembl":"ENSG00000081189","omim":"600662","loci":["5q14.3"],"via":{"orpha":228384,"name":"5q14.3 microdeletion syndrome"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}