{"orpha":98889,"name":"Bilateral perisylvian polymicrogyria","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-98889/","orphanet_url":"https://www.orpha.net/en/disease/detail/98889","names":{"fr":{"name":"Polymicrogyrie bilatérale périsylvienne"},"de":{"name":"Polymikrogyrie, bilaterale perisylvische"},"es":{"name":"Polimicrogiria perisilviana bilateral"},"it":{"name":"Polimicrogiria perisilviana bilaterale"},"nl":{"name":"Bilaterale perisylvische polymicrogyrie"},"pt":{"name":"Polimicrogiria, bilateral, perisilviana"},"pl":{"name":"Obustronna drobnozakrętowość okołosylwialna"},"cs":{"name":"Bilaterální perisylviální polymikrogyrie"},"uk":{"name":"Двостороння перисильвіозна полімікрогірія"},"zh":{"name":"双侧脑外侧裂多微小脑回"},"tr":{"name":"Bilateral perisylvian polimikrogri"}},"xrefs":[{"source":"OMIM","code":"300388","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615752","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616531","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.50","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1882677643"},{"source":"MONDO","code":"0020340","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845668","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6011","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2431,"name":"Central bilateral macrogyria","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268940,"name":"Bilateral polymicrogyria","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"SRPX2","name":"sushi repeat containing protein X-linked 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"16497722[PMID]","hgnc":"30668","ensembl":"ENSG00000102359","omim":"300642","loci":["Xq22.1"]},{"symbol":"ADGRG1","name":"adhesion G protein-coupled receptor G1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24531968[PMID]","hgnc":"4512","ensembl":"ENSG00000205336","omim":"604110","loci":["16q21"]},{"symbol":"PI4KA","name":"phosphatidylinositol 4-kinase alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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