{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation 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-269567/","orphanet_url":"https://www.orpha.net/en/disease/detail/269567","names":{"fr":{"name":"Syndrome génétique avec malformation du cervelet comme manifestation majeure"},"de":{"name":"Genetisch bedingtes Syndrom mit zerebellärer Fehlbildung als Hauptmerkmal"},"es":{"name":"Síndrome genético con malformación del cerebelo como característica principal"},"it":{"name":"Sindrome genetica con malformazione cerebellare come segno cardinale"},"nl":{"name":"Genetisch syndroom met cerebellaire malformatie als hoofdkenmerk"},"pt":{"name":"Síndrome genético com uma malformação cerebelosa como característica principal"},"pl":{"name":"Zespół genetyczny z malformacją móżdżku jako głównym objawem"},"cs":{"name":"Geneticky podmíněný syndrom s mozečkovou malformací jako hlavním příznakem"},"uk":{"name":"Генетично обумовлений синдром з вадою розвитку мозочка як основною ознакою"},"zh":{"name":"以小脑畸形为主要特征的遗传综合征"},"tr":{"name":"Esas klinik özelliği serebellar malformasyonu olan genetik sendrom"}},"xrefs":[{"source":"UMLS","code":"C5680762","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269560,"name":"Genetic cerebellar malformation","classifications":[156]}],"children":[{"orpha":370022,"name":"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome","type":"Disease"},{"orpha":444072,"name":"Cerebellar-facial-dental syndrome","type":"Malformation syndrome"},{"orpha":495875,"name":"Cerebello-oculo-facio-genital syndrome","type":"Malformation syndrome"},{"orpha":314597,"name":"Chudley-McCullough syndrome","type":"Malformation syndrome"},{"orpha":730699,"name":"Genetic syndromic rhombencephalosynapsis","type":"Category"},{"orpha":726677,"name":"Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome","type":"Malformation syndrome"},{"orpha":726684,"name":"Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome","type":"Malformation syndrome"},{"orpha":3322,"name":"Hoyeraal-Hreidarsson syndrome","type":"Disease"},{"orpha":1397,"name":"Hydrocephaly-cerebellar agenesis syndrome","type":"Malformation syndrome"},{"orpha":397709,"name":"Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome","type":"Malformation syndrome"},{"orpha":140874,"name":"Joubert syndrome","type":"Malformation syndrome"},{"orpha":439897,"name":"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome","type":"Malformation syndrome"},{"orpha":65285,"name":"Lhermitte-Duclos disease","type":"Clinical subtype"},{"orpha":443162,"name":"NDE1-related microhydranencephaly","type":"Malformation syndrome"},{"orpha":42775,"name":"PHACE syndrome","type":"Malformation syndrome"},{"orpha":401959,"name":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome","type":"Malformation syndrome"},{"orpha":65288,"name":"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome","type":"Malformation syndrome"},{"orpha":300573,"name":"Polymicrogyria due to TUBB2B mutation","type":"Malformation syndrome"},{"orpha":468699,"name":"SLC39A8-CDG","type":"Disease"},{"orpha":466688,"name":"Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome","type":"Malformation syndrome"},{"orpha":467166,"name":"Tubulinopathy-associated dysgyria","type":"Disease"},{"orpha":1493,"name":"Vici syndrome","type":"Malformation syndrome"},{"orpha":163961,"name":"X-linked cerebral-cerebellar-coloboma syndrome","type":"Disease"},{"orpha":137831,"name":"X-linked intellectual disability-cerebellar hypoplasia syndrome","type":"Disease"},{"orpha":459070,"name":"X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}