{"orpha":1239,"name":"Behr syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Behr complicated familial optic atrophy"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-1239/","orphanet_url":"https://www.orpha.net/en/disease/detail/1239","names":{"fr":{"name":"Syndrome de Behr","synonyms":["Atrophie optique compliquée de Behr"]},"de":{"name":"Behr-Syndrom","synonyms":["Komplizierte hereditäre infantile Optikusatrophie"]},"es":{"name":"Síndrome de Behr","synonyms":["Atrofia óptica familiar complicada de Behr"]},"it":{"name":"Sindrome di Behr","synonyms":["Atrofia ottica familiare complicata di Behr"]},"nl":{"name":"Syndroom van Behr","synonyms":["Behr-gecompliceerde familiale opticusatrofie"]},"pt":{"name":"Síndrome Behr"},"pl":{"name":"Zespół Behra","synonyms":["Behr complicated familial optic atrophy"]},"cs":{"name":"Behrův syndrom","synonyms":["Behr complicated familial optic atrophy"]},"uk":{"name":"Синдром Бера"},"zh":{"name":"弃用：贝尔综合征"},"tr":{"name":"Eski adı: Behr sendromu"}},"xrefs":[{"source":"OMIM","code":"210000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008858","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"8858","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221061","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":207025,"name":"Rare hereditary neurologic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"OPA1","name":"OPA1 mitochondrial dynamin like GTPase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35741767[PMID]","hgnc":"8140","ensembl":"ENSG00000198836","omim":"605290","loci":["3q29"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}