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CASK-related intellectual disability

MONDO:1060192

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, 0 tagged with CASK-related intellectual disability itself.

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