{"orpha":269546,"name":"Syndrome with a Dandy-Walker 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-269546/","orphanet_url":"https://www.orpha.net/en/disease/detail/269546","names":{"fr":{"name":"Syndrome avec une malformation de Dandy-Walker comme manifestation majeure"},"de":{"name":"Syndrom mit Dandy-Walker-Fehlbildung als Hauptmerkmal"},"es":{"name":"Síndrome con malformación de Dandy-Walker como característica principal"},"it":{"name":"Sindrome con malformazione di Dandy-Walker come segno cardinale"},"nl":{"name":"Syndroom met Dandy-Walker malformatie als hoofdkenmerk"},"pt":{"name":"Síndrome com uma malformação de Dandy-Walker como característica principal"},"pl":{"name":"Zespół z malformacją Dandy'ego i Walkera jako głównym objawem"},"cs":{"name":"Syndrom s Dandyho-Walkerovou malformací jako hlavním příznakem","synonyms":["Syndrom s Dandy-Walkerovou malformací jako hlavním příznakem"]},"uk":{"name":"Синдром з вадою розвитку Денді-Уокера як основною ознакою"},"zh":{"name":"以Dandy-Walker畸形为主要特征的综合征"},"tr":{"name":"Esas klinik özelliği Dandy-Walker malformasyonu olan sendrom"}},"xrefs":[{"source":"MONDO","code":"17121","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680766","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":729566,"name":"Syndrome with a posterior fossa cystic malformation as a major feature","classifications":[147,181]}],"children":[{"orpha":7,"name":"3C syndrome","type":"Malformation syndrome"},{"orpha":916,"name":"Aase-Smith syndrome type 1","type":"Malformation syndrome"},{"orpha":79332,"name":"B4GALT1-CDG","type":"Disease"},{"orpha":2218,"name":"Cervical hypertrichosis-peripheral neuropathy syndrome","type":"Disease"},{"orpha":1538,"name":"Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome","type":"Malformation syndrome"},{"orpha":1566,"name":"Dandy-Walker malformation-postaxial polydactyly syndrome","type":"Malformation syndrome"},{"orpha":1970,"name":"Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome","type":"Malformation syndrome"},{"orpha":2427,"name":"Macrocephaly-short stature-paraplegia syndrome","type":"Malformation syndrome"},{"orpha":3032,"name":"NPHP3-related Meckel-like syndrome","type":"Malformation syndrome"},{"orpha":73245,"name":"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome","type":"Malformation syndrome"},{"orpha":1568,"name":"X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}