{"orpha":684742,"name":"2q13 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["del2q13 syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-684742/","orphanet_url":"https://www.orpha.net/en/disease/detail/684742","names":{"fr":{"name":"Syndrome de microdélétion 2q13","synonyms":["Syndrome del2q13"]},"de":{"name":"Mikrodeletionssyndrom 2q13","synonyms":["del2q13-Syndrom"]},"es":{"name":"Síndrome de microdeleción 2q13","synonyms":["Síndrome del2q13"]},"it":{"name":"Sindrome da microdelezione 2q13","synonyms":["Sindrome del2q13"]},"nl":{"name":"2q13-microdeletiesyndroom","synonyms":["del2q13-syndroom"]},"pt":{"name":"Síndrome de microdeleção 2q13","synonyms":["Síndrome del2q13"]},"pl":{"name":"2q13 microdeletion syndrome","synonyms":["del2q13 syndrome"]},"cs":{"name":"Syndrom mikrodelece 2q13","synonyms":["del2q13 syndrome"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"975887","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]},{"orpha":262010,"name":"Partial deletion of the long arm of chromosome 2 syndrome","classifications":[147,156]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"FBLN7","name":"fibulin 7","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24694933[PMID]","hgnc":"26740","ensembl":"ENSG00000144152","omim":"611551","loci":["2q13"]},{"symbol":"TMEM87B","name":"transmembrane protein 87B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24694933[PMID]","hgnc":"25913","ensembl":"ENSG00000153214","omim":"617203","loci":["2q13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}