central nervous system malformation

Findings

No curated finding names central nervous system malformation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• developmental defect during embryogenesis
• nervous system disorder

Narrower terms (54)

• Aase-Smith syndrome
• aprosencephaly cerebellar dysgenesis
• arachnoid cyst
• ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
• autosomal recessive spinocerebellar ataxia 20
• B4GALT1-congenital disorder of glycosylation
• cerebellar-facial-dental syndrome
• cerebral gigantism-jaw cysts syndrome
• cervical hypertrichosis-peripheral neuropathy syndrome
• childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
• craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
• cystic malformation of the posterior fossa
• Dandy-Walker malformation-postaxial polydactyly syndrome
• facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome