{"orpha":684216,"name":"Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BEFAHRS","Beck-Fahrner syndrome","Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome","TET3 deficiency","TET3-related Beck-Fahrner syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-684216/","orphanet_url":"https://www.orpha.net/en/disease/detail/684216","names":{"fr":{"name":"Syndrome de déficience intellectuelle-dysmorphie faciale-hypermobilité articulaire-surdité","synonyms":["BEFAHRS","Syndrome de Beck-Fahrner"]},"de":{"name":"Intelligenzminderung-Gesichtsdysmorphien-Gelenkhypermobilität-Hörverlust-Syndrom","synonyms":["BEFAHRS","Beck-Fahrner-Syndrom","TET3-Defizienz"]},"es":{"name":"Síndrome de discapacidad intelectual-dismorfia facial-hipermovilidad articular-hipoacusia","synonyms":["BEFAHRS","Deficiencia de TET3","Síndrome de Beck-Fahrner","Síndrome de Beck-Fahrner asociado a TET3","Síndrome de discapacidad intelectual-dismorfia facial-hipermovilidad articular-sordera"]},"it":{"name":"Sindrome disabilità intellettiva-dismorfismi facciali-ipermobilità articolare-sordità","synonyms":["BEFAHRS","Sindrome di Beck-Fahrner","Sindrome disabilità intellettiva-dismorfismi facciali-ipermobilità articolare-perdita dell’udito","Deficit di TET3","Sindrome di Beck-Fahrner correlata a TET3"]},"nl":{"name":"Intellectuele achterstand - faciale dysmorfie - gewrichtshypermobiliteit - gehoorverlies-syndroom","synonyms":["BEFAHRS","Intellectuele achterstand - faciale dysmorfie - gewrichtshypermobiliteit - doofheid-syndroom","Syndroom van Beck-Fahrner","TET3-deficiëntie","TET3-gerelateerd syndroom van Beck-Fahrner"]},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-hipermobilidade articular-perda auditiva","synonyms":["BEFAHRS","Deficiência TET3","Síndrome Beck-Fahrner","Síndrome Beck-Fahrner TET3-relacionada","Síndrome de perturbação do desenvolvimento intelectual-dismorfia facial-hipermobilidade articular-surdez"]},"pl":{"name":"Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome","synonyms":["BEFAHRS","Beck-Fahrner syndrome","Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome","TET3 deficiency","TET3-related Beck-Fahrner syndrome"]},"cs":{"name":"Syndrom zahrnující intelektovou nedostatečnost, faciální dysmorfii, hypermobilitu kloubů a ztrátu sluchu","synonyms":["BEFAHRS","Beck-Fahrner syndrome","Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome","TET3 deficiency","TET3-related Beck-Fahrner syndrome"]}},"xrefs":[{"source":"OMIM","code":"618798","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32922","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":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"TET3","name":"tet methylcytosine dioxygenase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31928709[PMID]_34750377[PMID]","hgnc":"28313","ensembl":"ENSG00000187605","omim":"613555","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"31928709[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31928709[PMID]_ORPHANET"}],"phenotypes":null}