{"orpha":717830,"name":"2p14p15 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(2)(p14)(p15)","Deletion 2p14p15","Monosomy 2p14p15"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-717830/","orphanet_url":"https://www.orpha.net/en/disease/detail/717830","names":{"fr":{"name":"Syndrome de microdélétion 2p14p15","synonyms":["Del(2)(p14)(p15)","Délétion 2p14p15","Monosomie 2p14p15"]},"de":{"name":"Mikrodeletionssyndrom 2p14p15","synonyms":["Del(2)(p14)(p15)","Deletion 2p14p15","Monosomie 2p14p15"]},"es":{"name":"Síndrome de microdeleción 2p14p15","synonyms":["Monosomía 2p14p15","Del(2)(p14)(p15)","Deleción 2p14p15"]},"it":{"name":"Sindrome da microdelezione 2p14p15","synonyms":["Del(2)(p14)(p15)","Delezione 2p14p15","Monosomia 2p14p15"]},"nl":{"name":"2p14p15-microdeletiesyndroom","synonyms":["Monosomie 2p14p15","Del(2)(p14)(p15)","Deletie 2p14p15"]},"pt":{"name":"2p14p15 microdeletion syndrome"},"pl":{"name":"2p14p15 microdeletion syndrome","synonyms":["Del(2)(p14)(p15)","Deletion 2p14p15","Monosomy 2p14p15"]},"cs":{"name":"2p14p15 microdeletion syndrome","synonyms":["Del(2)(p14)(p15)","Deletion 2p14p15","Monosomy 2p14p15"]}},"xrefs":[{"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":261866,"name":"Partial deletion of the short arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"ACTR2","name":"actin related protein 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"35134569[PMID]","hgnc":"169","ensembl":"ENSG00000138071","omim":"604221","loci":["2p14"]},{"symbol":"RAB1A","name":"RAB1A, member RAS oncogene family","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"35134569[PMID]","hgnc":"9758","ensembl":"ENSG00000138069","omim":"179508","loci":["2p14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}