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.

Also known as: X-linked intellectual disability, Kroes type, cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive, X-linked cerebral-cerebellar-coloboma syndrome, cerebral-cerebellar-coloboma syndrome, X-linked

1 clinical trial for this condition and its sub-types, 0 tagged with X-linked cerebral-cerebellar-coloboma syndrome syndrome itself.