{"orpha":662198,"name":"Neurodevelopmental delay-intellectual disability-skeletal defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HNRNPH2-Related Neurodevelopmental Disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-662198/","orphanet_url":"https://www.orpha.net/en/disease/detail/662198","names":{"fr":{"name":"Syndrome de trouble neurologique du développement-déficience intellectuelle-anomalies squelettiques","synonyms":["Trouble neurodéveloppemental lié à l'HNRNPH2"]},"de":{"name":"Neurologische Entwicklungsverzögerung-Intelligenzminderung-Skelettdefekte-Syndrom","synonyms":["Neurologische Entwicklungsstörung, HNRNPH2-assoziierte"]},"es":{"name":"Síndrome de retraso del neurodesarrollo-discapacidad intelectual-defectos esqueléticos","synonyms":["Trastorno del neurodesarrollo asociado al gen HNRNPH2"]},"it":{"name":"Ritardo dello sviluppo neurologico-disabilità intellettiva-difetti scheletrici","synonyms":["Malattia del neurosviluppo correlata a HNRNPH2"]},"nl":{"name":"Neurologische ontwikkelingsachterstand - intellectuele achterstand - skeletdefecten-syndroom","synonyms":["HNRNPH2-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Síndrome de perturbação do neurodesenvolvimento-perturbação do desenvolvimento intelectual-defeitos esqueléticos","synonyms":["Doença do neurodesenvolvimento HNRNPH2-relacionada"]},"pl":{"name":"Zespół z opóźnieniem neurorozwojowym, niepełnosprawnością intelektualną i wadami kości","synonyms":["HNRNPH2-Related Neurodevelopmental Disorder"]},"cs":{"name":"Syndrom zahrnující opoždění neurologického vývoje, intelektovou nedostatečnost a vady skeletu","synonyms":["HNRNPH2-Related Neurodevelopmental Disorder"]},"uk":{"name":"Синдром затримки нейророзвитку-інтелектуальної недостатності-скелетних дефектів","synonyms":["HNRNPH2-повязаний розлад нейророзвитку"]}},"xrefs":[{"source":"OMIM","code":"300986","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010512","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10512","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925131","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]}],"children":[],"genes":[{"symbol":"HNRNPH2","name":"heterogeneous nuclear ribonucleoprotein H2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31670473[PMID]_33728377[PMID]_27545675[PMID]","hgnc":"5042","ensembl":"ENSG00000126945","omim":"300610","loci":["Xq22.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":44.0,"area":"Worldwide","status":"Validated","source":"27545675[PMID]_30887513[PMID]_31236915[PMID]_31670473[PMID]_33728377[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27545675[PMID]_30887513[PMID]_31236915[PMID]_31670473[PMID]_33728377[PMID]_ORPHANET"}],"phenotypes":null}