X-linked cerebral-cerebellar-coloboma syndrome syndrome
A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0020022
central nervous system malformation
is_a
X-linked intellectual disability, Kroes type
exact
cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive
exact