{"orpha":686482,"name":"BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BPTF-related NEDDFL","BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-686482/","orphanet_url":"https://www.orpha.net/en/disease/detail/686482","names":{"fr":{"name":"Syndrome de déficience intellectuelle-dysmorphie faciale-anomalies squelettiques associé à BPTF","synonyms":["NEDDFL"]},"de":{"name":"BPTF-assoziierte neurologische Entwicklungsstörung","synonyms":["BPTF-assoziierte neurologische Entwicklungsstörung mit dysmorphen Gesichtszügen und Anomalien der distalen Gliedmaßen","NEDDFL, BPTF-assoziiert"]},"es":{"name":"Síndrome de discapacidad intelectual-dismorfia facial-anomalías esqueléticas asociado al gen BPTF","synonyms":["Trastorno del neurodesarrollo con facies dismórfica y anomalías de las extremidades distales asociado al gen BPTF"]},"it":{"name":"Sindrome disabilità intellettuale-dismorfismi facciali-anomalie scheletriche correlata a BPTF","synonyms":["NEDDFL correlata a BPTF","Malattia del neurosviluppo con dismorfismi facciali e anomalie distali degli arti correlata a BPTF"]},"nl":{"name":"BPTF-gerelateerd intellectuele achterstand - faciale dysmorfie - skeletanomalieën-syndroom","synonyms":["BPTF-gerelateerd NEDDFL","BPTF-gerelateerde neurologische ontwikkelingsstoornis met dysmorf gelaat en distale ledemaatanomalieën"]},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-anomalias esqueléticas BPTF-relacionada","synonyms":["Doença do neurodesenvolvimento BPTF-relacionada com dismorfia facial e anomalias distais dos membros","NEDDFL BPTF-relacionada"]},"pl":{"name":"BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome","synonyms":["BPTF-related NEDDFL","BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"]},"cs":{"name":"BPTF asociovaný syndrom zahrnující intelektovou nedostatečnost, faciální dysmorfii a kosterní anomálie","synonyms":["BPTF-related NEDDFL","BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"]}},"xrefs":[{"source":"OMIM","code":"617755","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"60596","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":"BPTF","name":"bromodomain PHD finger transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33522091[PMID]","hgnc":"3581","ensembl":"ENSG00000171634","omim":"601819","loci":["17q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":49.0,"area":"Worldwide","status":"Validated","source":"28942966[PMID]_33522091[PMID]_30633344[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28942966[PMID]_33522091[PMID]_30633344[PMID]_ORPHANET"}],"phenotypes":null}