{"orpha":684226,"name":"Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["KMT5B haploinsufficiency neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-684226/","orphanet_url":"https://www.orpha.net/en/disease/detail/684226","names":{"fr":{"name":"Syndrome de déficience intellectuelle-hypotonie-dysmorphie faciale-macrocéphalie","synonyms":["Trouble neurologique du développement dû à une haploinsuffisance de KMT5B"]},"de":{"name":"Intelligenzminderung-Hypotonie-Gesichtsdysmorphien-Makrozephalie-Syndrom","synonyms":["Neurologische Entwicklungsstörung durch KMT5B-Haploinsuffizienz"]},"es":{"name":"Síndrome de discapacidad intelectual-hipotonía-dismorfia facial-macrocefalia","synonyms":["Trastorno del neurodesarrollo por haploinsuficiencia de KMT5B"]},"it":{"name":"Sindrome disabilità intellettiva-ipotonia-dismorfismi facciali-macrocefalia","synonyms":["Malattia del neurosviluppo da aploinsufficienza di KMT5B"]},"nl":{"name":"Intellectuele achterstand - hypotonie - faciale dysmorfie - macrocefalie-syndroom","synonyms":["KMT5B-haploinsufficiëntie-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-hipotonia-dismorfia facial-macrocefalia","synonyms":["Doença do neurodesenvolvimento devido a haploinsuficiência KMT5B"]},"pl":{"name":"Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome","synonyms":["KMT5B haploinsufficiency neurodevelopmental disorder"]},"cs":{"name":"Syndrom zahrnující intelektovou nedostatečnost, hypotonii, faciální dysmorfii a makrocefalii","synonyms":["KMT5B haploinsufficiency neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"617788","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"30917","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":"KMT5B","name":"lysine methyltransferase 5B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28191889[PMID]_38571636[PMID]_36897941[PMID]","hgnc":"24283","ensembl":"ENSG00000110066","omim":"610881","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"38571636[PMID]_28191889[PMID]_29276005[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38571636[PMID]_28191889[PMID]_29276005[PMID]_ORPHANET"}],"phenotypes":null}