X-linked intellectual disability with or without nystagmus
Findings
No curated finding names X-linked intellectual disability with or without nystagmus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked intelelctual disability in which the cause of the disease is hypomorphic CASK pathogenic variants. Affected individuals present with intellectual disability with or without congenital nystagmus. Additional features often include epilepsy, speech impairment, motor delay, and variable brain malformations. Phenotypic severity ranges from mild cognitive impairment to severe developmental disability.
Definition from the Mondo Disease Ontology (MONDO:1060193), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: X-linked intellectual disability with or without nystagmus
- Also called
- XLID