{"orpha":717812,"name":"12q24.31 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(12)(q24.31)","Deletion 12q24.31","Monosomy 12q24.31"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-717812/","orphanet_url":"https://www.orpha.net/en/disease/detail/717812","names":{"fr":{"name":"Syndrome de microdélétion 12q24.31","synonyms":["Del(12)(q24.31)","Délétion 12q24.31","Monosomie 12q24.31"]},"de":{"name":"Mikrodeletionssyndrom 12q24.31","synonyms":["Del(12)(q24.31)","Deletion 12q24.31","Monosomie 12q24.31"]},"es":{"name":"Síndrome de microdeleción 12q24.31","synonyms":["Del(12)(q24.31)","Deleción 12q24.31","Monosomía 12q24.31"]},"it":{"name":"Sindrome da microdelezione 12q24.31","synonyms":["Del(12)(q24.31)","Delezione 12q24.31","Monosomia 12q24.31"]},"nl":{"name":"12q24.31-microdeletiesyndroom","synonyms":["Del(12)(q24.31)","Deletie 12q24.31","Monosomie 12q24.31"]},"pt":{"name":"12q24.31 microdeletion syndrome"},"pl":{"name":"12q24.31 microdeletion syndrome","synonyms":["Del(12)(q24.31)","Deletion 12q24.31","Monosomy 12q24.31"]},"cs":{"name":"12q24.31 microdeletion syndrome","synonyms":["Del(12)(q24.31)","Deletion 12q24.31","Monosomy 12q24.31"]}},"xrefs":[{"source":"OMIM","code":"619000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","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]},{"orpha":261821,"name":"Partial deletion of the long arm of chromosome 12 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"KDM2B","name":"lysine demethylase 2B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"27106595[PMID]","hgnc":"13610","ensembl":"ENSG00000089094","omim":"609078","loci":["12q24.31"]},{"symbol":"SETD1B","name":"SET domain containing 1B, histone lysine methyltransferase","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"27106595[PMID]","hgnc":"29187","ensembl":"ENSG00000139718","omim":"611055","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}