/X-linked cerebral-cerebellar-coloboma syndrome syndrome

X-linked cerebral-cerebellar-coloboma syndrome syndrome

Rare Disease

MONDO:0010464

Also Known As

X-linked intellectual disability, Kroes typecerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessiveX-linked cerebral-cerebellar-coloboma syndromecerebral-cerebellar-coloboma syndrome, X-linked

Definition

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.