{"orpha":726782,"name":"Intellectual disability-myopathy-white matter abnormality syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ABCC9-related Intellectual disability-myopathy syndrome","AIMS"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726782/","orphanet_url":"https://www.orpha.net/en/disease/detail/726782","names":{"fr":{"name":"Syndrome de déficience intellectuelle-myopathie-annomalie de la substance blanche","synonyms":["Syndrome de déficience intellectuelle-myopathie associé à ABCC9"]},"de":{"name":"Intelligenzminderung-Myopathie-Anomalie der weißen Gehirnsubstanz-Syndrom","synonyms":["AIMS","Intelligenzminderung-Myopathie-Syndrom, ABCC9-assoziiertes"]},"es":{"name":"Síndrome de discapacidad intelectual-miopatía-anomalía de la sustancia blanca","synonyms":["Síndrome de discapacidad intelectual-miopatía asociado al gen ABCC9","AIMS"]},"it":{"name":"Sindrome disabilità intellettiva-miopatia-anomalie della sostanza bianca","synonyms":["AIMS","Sindrome disabilità intellettiva-miopatia correlata ad ABCC9"]},"nl":{"name":"Intellectuele achterstand - myopathie - wittestofafwijking-syndroom","synonyms":["AIMS","ABCC9-gerelateerd intellectuele achterstand - myopathie-syndroom"]},"pt":{"name":"Intellectual disability-myopathy-white matter abnormality syndrome"},"pl":{"name":"Intellectual disability-myopathy-white matter abnormality syndrome","synonyms":["ABCC9-related Intellectual disability-myopathy syndrome","AIMS"]},"cs":{"name":"Intellectual disability-myopathy-white matter abnormality syndrome","synonyms":["ABCC9-related Intellectual disability-myopathy syndrome","AIMS"]}},"xrefs":[{"source":"OMIM","code":"619719","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":"ABCC9","name":"ATP binding cassette subfamily C member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31575858[PMID]_38217872[PMID]","hgnc":"60","ensembl":"ENSG00000069431","omim":"601439","loci":["12p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}