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.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
CASK-related disorder
exact