{"orpha":664923,"name":"Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["NEDMABA disorder","Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664923/","orphanet_url":"https://www.orpha.net/en/disease/detail/664923","names":{"fr":{"name":"Syndrome d'arthrogrypose congénitale-microcéphalie-dysmorphie faciale-retard sévère du développement","synonyms":["Syndrome de NEDMABA","Syndrome de retard global de développement-microcéphalie-arthrogrypose-anomalies cérébrales structurelles"]},"de":{"name":"Kongenitale Arthrogrypose-Mikrozephalie-Gesichtsdysmorphien-schwere neurologische Entwicklungsverzögerung-Syndrom","synonyms":["NEDMABA","Neurologische Entwicklungsstörung mit Mikrozephalie, Arthrogrypose und strukturellen Hirnanomalien"]},"es":{"name":"Síndrome de artrogriposis-microcefalia-dismorfia facial-retraso grave del neurodesarrollo congénito","synonyms":["Trastorno NEDMABA","Trastorno del neurodesarrollo-microcefalia-artrogriposis-anomalías estructurales cerebrales"]},"it":{"name":"Sindrome artrogriposi congenita -microcefalia-dismorfismi facciali-grave ritardo dello sviluppo neurologico","synonyms":["Malattia NEDMABA","Malattia del neurosviluppo-microcefalia-artrogriposi-anomalie strutturali del cervello"]},"nl":{"name":"Congenitale artrogrypose - microcefalie - faciale dysmorfie - ernstige neurologische ontwikkelingsachterstand-syndroom","synonyms":["NEDMABA-aandoening","Neurologische ontwikkelingsstoornis - microcefalie - artrogrypose - structurele hersenanomalieën"]},"pt":{"name":"Síndrome de artrogripose congénita-microcefalia-dismorfia facial-perturbação grave do neurodesenvolvimento","synonyms":["Doença NEDMABA","Doença do neurodesenvolvimento-microcefalia-artrogripose-anomalias estruturais cerebrais"]},"pl":{"name":"Zespół wrodzonej artrogrypozy, małogłowia, dysmorfii twarzy i ciężkiego opóźnienia neurorozwojowego","synonyms":["NEDMABA disorder","Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies"]},"cs":{"name":"Syndrom zahrnující vrozenou artrogrypózu, mikrocefalii, faciální dysmorfii a těžké opoždění neurologického vývoje","synonyms":["NEDMABA disorder","Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies"]},"uk":{"name":"Синдром вродженого артрогрипозу-мікроцефалії-дизморфізму обличчя-тяжкої затримки нейророзвитку","synonyms":["Хвороба NEDMABA","Порушення нейророзвитку-мікроцефалія-артрогрипоз-структурні аномалії головного мозку"]}},"xrefs":[{"source":"OMIM","code":"618622","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032838","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32838","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231431","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"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":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"SMPD4","name":"sphingomyelin phosphodiesterase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31495489[PMID]","hgnc":"32949","ensembl":"ENSG00000136699","omim":"610457","loci":["2q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}