hydrocephaly-cerebellar agenesis syndrome
MONDO:0010612Mondo
Findings
No curated finding names hydrocephaly-cerebellar agenesis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.
Definition from the Mondo Disease Ontology (MONDO:0010612), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Cerebellar agenesisHPOHP:0012642
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: hydrocephaly-cerebellar agenesis syndrome
- Also called
- X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome