{"orpha":102010,"name":"Other syndrome with lissencephaly as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-102010/","orphanet_url":"https://www.orpha.net/en/disease/detail/102010","names":{"fr":{"name":"Autre syndrome avec une lissencéphalie comme manifestation majeure"},"de":{"name":"Sonstige Syndrome mit Lissenzephalie als Hauptmerkmal"},"es":{"name":"Otros síndromes con lisencefalia como característica principal"},"it":{"name":"Altra sindrome con lissencefalia come segno cardinale"},"nl":{"name":"Ander syndroom met lissencefalie als hoofdkenmerk"},"pt":{"name":"Outro síndrome com lisencefalia como característica principal"},"pl":{"name":"Inny zespół z lizencefalią jako głównym objawem"},"cs":{"name":"Další syndromy s lisencefalií jako hlavním příznakem"},"uk":{"name":"Інші синдроми з лісенцефалією як основною ознакою"},"zh":{"name":"其他以无脑回畸形为主要特征的综合征"},"tr":{"name":"Esas klinik özelliği lizensefali olan diğer sendrom"}},"xrefs":[{"source":"ICD-11","code":"LD20.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"805385297"},{"source":"MONDO","code":"15147","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681781","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19820","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":101356,"name":"OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":48471,"name":"Lissencephaly","classifications":[147,156,181]}],"children":[{"orpha":2995,"name":"Baraitser-Winter cerebrofrontofacial syndrome","type":"Malformation syndrome"},{"orpha":1528,"name":"Craniotelencephalic dysplasia","type":"Malformation syndrome"},{"orpha":2510,"name":"Micro syndrome","type":"Malformation syndrome"},{"orpha":452,"name":"X-linked lissencephaly with abnormal genitalia","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}