{"orpha":658540,"name":"16q22 deletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-658540/","orphanet_url":"https://www.orpha.net/en/disease/detail/658540","names":{"fr":{"name":"Syndrome de délétion 16q22"},"de":{"name":"16q22-Deletionssyndrom"},"es":{"name":"Síndrome de deleción 16q22"},"it":{"name":"Sindrome da delezione 16q22"},"nl":{"name":"16q22-deletiesyndroom"},"pt":{"name":"Síndrome de deleção 16q22"},"pl":{"name":"Zespół delecji 16q22"},"cs":{"name":"Syndrom delece 16q22"},"uk":{"name":"Синдром делеції 16q22"}},"xrefs":[{"source":"OMIM","code":"614541","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013798","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"13798","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925109","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":262128,"name":"Partial deletion of the long arm of chromosome 16 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}