X-linked intellectual disability with or without nystagmus

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.

Also known as XLID — per MONDO

Also identified as

• UMLS C3275356 per MONDO