{"orpha":48471,"name":"Lissencephaly","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-48471/","orphanet_url":"https://www.orpha.net/en/disease/detail/48471","names":{"fr":{"name":"Lissencéphalie"},"de":{"name":"Lissenzephalie"},"es":{"name":"Lisencefalia"},"it":{"name":"Lissencefalia"},"nl":{"name":"Lissencefalie"},"pt":{"name":"Lisencefalia"},"pl":{"name":"Lizencefalia"},"cs":{"name":"Lissencefalie"},"uk":{"name":"Лісенцефалія","definition":"The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis."},"zh":{"name":"无脑回畸形"},"tr":{"name":"Lizensefali"}},"xrefs":[{"source":"MONDO","code":"0018838","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18838","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054082","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266463","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12291","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048911","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":729560,"name":"Forebrain malformation","classifications":[147,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[{"orpha":102009,"name":"Classic lissencephaly","type":"Clinical group"},{"orpha":51577,"name":"Cobblestone lissencephaly","type":"Clinical group"},{"orpha":171680,"name":"Lissencephaly due to TUBA1A mutation","type":"Malformation syndrome"},{"orpha":102011,"name":"Lissencephaly type 3","type":"Clinical group"},{"orpha":86823,"name":"Lissencephaly with cerebellar hypoplasia","type":"Clinical group"},{"orpha":1083,"name":"Microlissencephaly","type":"Morphological anomaly"},{"orpha":102010,"name":"Other syndrome with lissencephaly as a major feature","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}