{"orpha":662189,"name":"Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HNRNPR-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-662189/","orphanet_url":"https://www.orpha.net/en/disease/detail/662189","names":{"fr":{"name":"Syndrome de trouble neurologique du développement-malformations cérébrales-dysmorphie facial-brachydactylie","synonyms":["Syndrome lié à HNRNPR"]},"de":{"name":"Neurologische Entwicklungsverzögerung-Hirnfehlbildung-Gesichtsdysmorphie-Brachydaktylie-Syndrom","synonyms":["Neurologische Entwicklungsstörung, HNRNPR-assoziierte"]},"es":{"name":"Síndrome de trastorno del neurodesarrollo-malformación cerebral-dismorfia facial-braquidactilia","synonyms":["Trastorno del neurodesarrollo asociado al gen HNRNPR"]},"it":{"name":"Malattia del neurosviluppo-malformazione cerebrale-dismorfismi facciali-brachidattilia","synonyms":["Malattia del neurosviluppo correlata a HNRNPR"]},"nl":{"name":"Neurologische ontwikkelingsstoornis - hersenmalformatie - faciale dysmorfie - brachydactylie-syndroom","synonyms":["HNRNPR-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Síndrome de doença do neurodesenvolvimento-malformação cerebral-dismorfia facial-braquidactilia","synonyms":["Doença do neurodesenvolvimento HNRNPR-relacionada"]},"pl":{"name":"Zespół z zaburzeniami neurorozwojowymi, malformacją mózgu, dysmorfią twarzy i brachydaktylią","synonyms":["HNRNPR-related neurodevelopmental disorder"]},"cs":{"name":"Syndrom zahrnující neurovývojovou poruchu, malformaci mozku, faciální dysmorfii a brachydaktylii","synonyms":["HNRNPR-related neurodevelopmental disorder"]},"uk":{"name":"Синдром порушення нейророзвитку-вад розвитку головного мозку-дизморфізму обличчя-брахідактилії","synonyms":["Повязане з HNRNPR порушення нейророзвитку"]}},"xrefs":[{"source":"OMIM","code":"620073","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0859297","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"859297","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925129","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":[],"genes":[{"symbol":"HNRNPR","name":"heterogeneous nuclear ribonucleoprotein R","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31079900[PMID]","hgnc":"5047","ensembl":"ENSG00000125944","omim":"607201","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"31079900[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31079900[PMID]_ORPHANET"}],"phenotypes":null}