CASK-related intellectual disability
MONDO:1060192Mondo
Findings
No curated finding names CASK-related intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic disorder in which the cause of the disease is a variation in the CASK gene. It is associated with a wide phenotypic spectrum ranging from mild-to-severe intellectual disability with or without nystagmus to moderate-to-profound intellectual disability and progressive microcephaly with pontine and cerebellar hypoplasia, often associated with seizures.
Definition from the Mondo Disease Ontology (MONDO:1060192), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: CASK-related intellectual disability
- Also called
- CASK-related disorder