{"orpha":662207,"name":"Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HNRPH1-related neurodevelopmental disorder","Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-662207/","orphanet_url":"https://www.orpha.net/en/disease/detail/662207","names":{"fr":{"name":"Syndrome de retard neurodéveloppemental-malformations cérébrales-anomalies squelettiques-déficience intellectuelle","synonyms":["Pathologie de trouble neurologique du développement avec dysmorphie cranio-facial et anomalies squelettiques"]},"de":{"name":"Neurologische Entwicklungsverzögerung-Hirnfehlbildungen-Skelettdefekte-Intelligenzminderung-Syndrom","synonyms":["Neurologische Entwicklungsstörung mit kraniofazialen Dysmorphien und skelettalen Defekten","Neurologische Entwicklungsstörung, HNRPH1-assoziierte"]},"es":{"name":"Síndrome de retraso del neurodesarrollo-malformaciones cerebrales-defectos esqueléticos-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado al gen HNRPH1","Trastorno del neurodesarrollo con dismorfia craneofacial y defectos esqueléticos"]},"it":{"name":"Sindrome ritardo dello sviluppo neurologico-malformazioni cerebrali-difetti scheletrici-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a HNRPH1","Malattia del neurosviluppo con dismorfismi craniofacciali e difetti scheletrici"]},"nl":{"name":"Neurologische ontwikkelingsachterstand - hersenmalformaties - skeletdefecten - intellectuele achterstand-syndroom","synonyms":["HNRPH1-gerelateerde neurologische ontwikkelingsstoornis","Neurologische ontwikkelingsstoornis met craniofaciale dysmorfie en skeletdefecten"]},"pt":{"name":"Síndrome de perturbação do neurodesenvolvimento-malformações cerebrais-defeitos esqueléticos-perturbação do desenvolvimento intelectual","synonyms":["Doença do neurodesenvolvimento HNRPH1-relacionada","Doença do neurodesenvolvimento com dismorfia facial e defeitos esqueléticos"]},"pl":{"name":"Zespół z opóźnieniem neurorozwojowym, malformacjami mózgu, wadami kości i niepełnosprawnością intelektualną","synonyms":["HNRPH1-related neurodevelopmental disorder","Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects"]},"cs":{"name":"Syndrom zahrnující opoždění neurologického vývoje, malformace mozku, vady skeletu a intelektovou nedostatečnost","synonyms":["HNRPH1-related neurodevelopmental disorder","Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects"]},"uk":{"name":"Синдром затримки нейророзвитку-вад розвитку мозку-дефектів скелета-інтелектуальної недостатності","synonyms":["Повязане з HNRPH1 порушення нейророзвитку","Порушення нейророзвитку з черепно-лицьовим дисморфізмом та дефектами скелета"]}},"xrefs":[{"source":"OMIM","code":"620083","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0859301","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"859301","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5774235","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":"HNRNPH1","name":"heterogeneous nuclear ribonucleoprotein H1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29938792[PMID]_32335897[PMID]","hgnc":"5041","ensembl":"ENSG00000169045","omim":"601035","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"29938792[PMID]_32335897[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29938792[PMID]_32335897[PMID]_ORPHANET"}],"phenotypes":null}