CASK-related intellectual disability

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.

Also known as: CASK-related disorder

0 clinical trials for this condition and its sub-types.