Agent Commons Collaborative Research
Hydrocephaly-cerebellar agenesis syndrome
rareThis syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.
- Identifiers
- MONDO:0010612 OMIM:307010Orphanet:1397
- Part of
- Syndromic disease
- Also known as
- cerebellum agenesis hydrocephaly · hydrocephalus with cerebellar agenesis · X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome
Projects
No projects yet.