{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Genetic syndrome with a CNS malformation as major feature"],"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-269564/","orphanet_url":"https://www.orpha.net/en/disease/detail/269564","names":{"fr":{"name":"Syndrome génétique avec malformation du système nerveux central comme manifestation majeure"},"de":{"name":"Genetisch bedingtes Syndrom mit Zentralnervensystem-Fehlbildung als Hauptmerkmal","synonyms":["Genetisch bedingtes Syndrom mit ZNS-Fehlbildung als Hauptmerkmal"]},"es":{"name":"Síndrome genético con malformación del sistema nervioso central como característica principal","synonyms":["Síndrome genético con malformación del SNC como característica principal"]},"it":{"name":"Sindrome genetica con malformazione del sistema nervoso centrale come segno cardinale"},"nl":{"name":"Genetisch syndroom met malformatie van centraal zenuwstelsel als hoofdkenmerk","synonyms":["Genetisch syndroom met malformatie van CZS als hoofdkenmerk"]},"pt":{"name":"Síndrome genético com uma malformação do sistema nervoso central como característica principal"},"pl":{"name":"Zespół genetyczny z malformacją centralnego układu nerwowego jako głównym objawem","synonyms":["Genetic syndrome with a CNS malformation as major feature"]},"cs":{"name":"Geneticky podmíněné syndromy s malformací centrálního nervového systému jako hlavním příznakem","synonyms":["Genetic syndrome with a CNS malformation as major feature"]},"uk":{"name":"Генетично обумовлений синдром, основною ознакою якого є вада розвитку центральної нервової системи","synonyms":["Генетичний синдром з вадою розвитку ЦНС як основна ознака"]},"zh":{"name":"以中枢神经系统畸形为主要特征的遗传综合征","synonyms":["以CNS畸形为主要特征的遗传综合征"]},"tr":{"name":"Esas klinik özelliği merkezi sinir sistemi malformasyonu olan genetik sendrom","synonyms":["CNS malformasyonun ana özellik olduğu genetik 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hydranencephaly-diaphragmatic hernia syndrome","type":"Malformation syndrome"},{"orpha":48471,"name":"Lissencephaly","type":"Category"},{"orpha":210548,"name":"Macrocephaly-intellectual disability-autism syndrome","type":"Disease"},{"orpha":564,"name":"Meckel syndrome","type":"Malformation syndrome"},{"orpha":500135,"name":"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome","type":"Malformation syndrome"},{"orpha":544469,"name":"PRUNE1-related neurological syndrome","type":"Malformation syndrome"},{"orpha":556955,"name":"Pancreatic agenesis-holoprosencephaly syndrome","type":"Disease"},{"orpha":250972,"name":"Polymicrogyria with optic nerve hypoplasia","type":"Malformation syndrome"},{"orpha":306547,"name":"Porencephaly-microcephaly-bilateral congenital cataract syndrome","type":"Malformation syndrome"},{"orpha":247198,"name":"Progressive cerebello-cerebral 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