{"orpha":269531,"name":"Other syndrome with a central nervous system 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-269531/","orphanet_url":"https://www.orpha.net/en/disease/detail/269531","names":{"fr":{"name":"Autre syndrome avec malformation du système nerveux central comme manifestation majeure"},"de":{"name":"Sonstiges Syndrom mit ZNS-Fehlbildung als Hauptmerkmal"},"es":{"name":"Otro síndrome con malformación del sistema nervioso central como característica principal"},"it":{"name":"Altra sindrome con malformazione del sistema nervoso centrale come segno cardinale"},"nl":{"name":"Ander syndroom met malformatie van centraal zenuwstelsel als hoofdkenmerk"},"pt":{"name":"Outro síndrome com uma malformação do sistema nervoso central como característica principal"},"pl":{"name":"Inny zespół z malformacją centralnego układu nerwowego jako głównym objawem"},"cs":{"name":"Jiný syndrom s malformací centrálního nervového systému jako hlavním příznakem"},"uk":{"name":"Інший синдром з вадою розвитку центральної нервової системи як основною ознакою"},"zh":{"name":"以中枢神经系统畸形为主要特征的其他综合征"},"tr":{"name":"Esas klinik özelliği merkezi sinir sistemi malformasyonu olan diğer sendrom"}},"xrefs":[{"source":"MONDO","code":"17120","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680765","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":729560,"name":"Forebrain malformation","classifications":[147,181]}],"children":[{"orpha":664410,"name":"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":251383,"name":"CK syndrome","type":"Malformation syndrome"},{"orpha":314993,"name":"Cataract-congenital heart disease-neural tube defect syndrome","type":"Malformation syndrome"},{"orpha":1756,"name":"Caudal duplication","type":"Malformation syndrome"},{"orpha":603448,"name":"Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome","type":"Malformation syndrome"},{"orpha":66625,"name":"Cerebrooculonasal syndrome","type":"Malformation syndrome"},{"orpha":314597,"name":"Chudley-McCullough syndrome","type":"Malformation syndrome"},{"orpha":171839,"name":"Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome","type":"Malformation syndrome"},{"orpha":708208,"name":"Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome","type":"Malformation syndrome"},{"orpha":529574,"name":"Duane retraction syndrome with congenital deafness","type":"Malformation syndrome"},{"orpha":500144,"name":"Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome","type":"Malformation syndrome"},{"orpha":93932,"name":"FG syndrome type 1","type":"Disease"},{"orpha":659609,"name":"Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome","type":"Malformation syndrome"},{"orpha":1768,"name":"Familial caudal dysgenesis","type":"Malformation syndrome"},{"orpha":221126,"name":"Fowler vasculopathy","type":"Malformation syndrome"},{"orpha":2065,"name":"Galloway-Mowat syndrome","type":"Malformation syndrome"},{"orpha":2117,"name":"Hartsfield syndrome","type":"Malformation syndrome"},{"orpha":2165,"name":"Holoprosencephaly-caudal dysgenesis syndrome","type":"Malformation syndrome"},{"orpha":2163,"name":"Holoprosencephaly-craniosynostosis syndrome","type":"Malformation syndrome"},{"orpha":2184,"name":"Hydrocephaly-low insertion umbilicus syndrome","type":"Malformation syndrome"},{"orpha":2189,"name":"Hydrolethalus","type":"Malformation syndrome"},{"orpha":610569,"name":"KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome","type":"Disease"},{"orpha":2351,"name":"Kousseff syndrome","type":"Malformation syndrome"},{"orpha":83628,"name":"LUMBAR syndrome","type":"Malformation syndrome"},{"orpha":444069,"name":"Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome","type":"Malformation syndrome"},{"orpha":480528,"name":"Lethal hydranencephaly-diaphragmatic hernia syndrome","type":"Malformation syndrome"},{"orpha":2570,"name":"Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome","type":"Malformation syndrome"},{"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":443162,"name":"NDE1-related microhydranencephaly","type":"Malformation syndrome"},{"orpha":662207,"name":"Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":662189,"name":"Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome","type":"Malformation syndrome"},{"orpha":1647,"name":"Oculocerebrocutaneous syndrome","type":"Malformation syndrome"},{"orpha":544469,"name":"PRUNE1-related neurological syndrome","type":"Malformation syndrome"},{"orpha":556955,"name":"Pancreatic agenesis-holoprosencephaly syndrome","type":"Disease"},{"orpha":300573,"name":"Polymicrogyria due to TUBB2B mutation","type":"Malformation syndrome"},{"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 atrophy","type":"Disease"},{"orpha":356961,"name":"SLC35A2-CDG","type":"Disease"},{"orpha":729761,"name":"Sandestig-Stefanova syndrome","type":"Malformation syndrome"},{"orpha":63862,"name":"Schisis association","type":"Malformation syndrome"},{"orpha":3157,"name":"Septo-optic dysplasia spectrum","type":"Malformation syndrome"},{"orpha":3176,"name":"Spina bifida-hypospadias syndrome","type":"Malformation syndrome"},{"orpha":592570,"name":"TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome","type":"Malformation syndrome"},{"orpha":1861,"name":"Thoracic dysplasia-hydrocephalus syndrome","type":"Malformation syndrome"},{"orpha":688642,"name":"Turnpenny-Fry syndrome","type":"Malformation syndrome"},{"orpha":443988,"name":"Ventriculomegaly-cystic kidney disease","type":"Disease"},{"orpha":3469,"name":"XK aprosencephaly syndrome","type":"Malformation syndrome"},{"orpha":500150,"name":"ZTTK syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}