{"orpha":684232,"name":"Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Den Hoed-De Boer-Voisin syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-684232/","orphanet_url":"https://www.orpha.net/en/disease/detail/684232","names":{"fr":{"name":"Syndrome de déficience intellectuelle-épilepsie-anomalies dentaires-dysmorphie faciale","synonyms":["Syndrome de Den Hoed-De Boer-Voisin"]},"de":{"name":"Intelligenzminderung-Epilepsie-Zahnanomalien-Gesichtsdysmorphien-Syndrom","synonyms":["Den Hoed-De Boer-Voisin-Syndrom"]},"es":{"name":"Síndrome de discapacidad intelectual-epilepsia-anomalías dentales-dismorfia facial","synonyms":["Síndrome de Den Hoed-De Boer-Voisin"]},"it":{"name":"Sindrome disabilità intellettiva-epilessia-anomalie dentali-dismorfismi facciali","synonyms":["Sindrome di Den Hoed-De Boer-Voisin"]},"nl":{"name":"Intellectuele achterstand - epilepsie - dentale anomalieën - faciale dysmorfie-syndroom","synonyms":["Syndroom van Den Hoed-De Boer"]},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-epilepsia-anomalias dentárias-dismorfia facial","synonyms":["Síndrome Den Hoed-De Boer-Voisin"]},"pl":{"name":"Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome","synonyms":["Den Hoed-De Boer-Voisin syndrome"]},"cs":{"name":"Syndrom zahrnující intelektovou nedostatečnost, epilepsii, anomálie zubů a faciální dysmorfii","synonyms":["Den Hoed-De Boer-Voisin syndrome"]}},"xrefs":[{"source":"OMIM","code":"619228","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619229","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"975882","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SATB1","name":"SATB homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33513338[PMID]","hgnc":"10541","ensembl":"ENSG00000182568","omim":"602075","loci":["3p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":41.0,"area":"Worldwide","status":"Validated","source":"33513338[PMID]_33513338[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33513338[PMID]_33513338[PMID]_ORPHANET"}],"phenotypes":null}