{"orpha":708203,"name":"Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SMC1A-related intellectual disability-small hands and feet-drug-resistant epilepsy syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708203/","orphanet_url":"https://www.orpha.net/en/disease/detail/708203","names":{"fr":{"name":"Syndrome de déficience intellecutelle-petites mains et pieds-épilepsie réfractaire","synonyms":["Syndrome de déficience intellecutelle-petites mains et pieds-épilepsie réfractaire associée à SMC1A"]},"de":{"name":"Intelligenzminderung-kleine Hände und Füße-medikamentenresistente Epilepsie-Syndrom","synonyms":["SMC1A-assoziiertes Intelligenzminderung-Syndrom"]},"es":{"name":"Síndrome de discapacidad intelectual-manos y pies pequeños-epilepsia farmacorresistente","synonyms":["Síndrome de discapacidad intelectual-manos y pies pequeños-epilepsia farmacorresistente asociado a SMC1A"]},"it":{"name":"Sindrome disabilità intellettiva-mani e piedi piccoli-epilessia farmaco resistente","synonyms":["Sindrome disabilità intellettiva-mani e piedi piccoli-epilessia farmaco resistente correlata a SMC1A"]},"nl":{"name":"Intellectuele achterstand - kleine handen en voeten - refractaire epilepsie-syndroom","synonyms":["SMC1A-gerelateerd intellectuele achterstand - kleine handen en voeten - refractaire epilepsie-syndroom"]},"pt":{"name":"Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome"},"pl":{"name":"Zespół niepełnosprawności intelektualnej, małych dłoni i stóp oraz padaczki lekoopornej","synonyms":["SMC1A-related intellectual disability-small hands and feet-drug-resistant epilepsy syndrome"]},"cs":{"name":"Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome","synonyms":["SMC1A-related intellectual disability-small hands and feet-drug-resistant epilepsy syndrome"]}},"xrefs":[{"source":"OMIM","code":"301044","qualifier":"NTBT","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]}],"children":[],"genes":[{"symbol":"SMC1A","name":"structural maintenance of chromosomes 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26752331[PMID]","hgnc":"11111","ensembl":"ENSG00000072501","omim":"300040","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"26752331[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"26752331[PMID]_ORPHANET"}],"phenotypes":null}