disease has major feature X-linked cerebral-cerebellar-coloboma syndrome syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/cerebral_cerebellar_coloboma_syndrome_x_linked cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive cerebral-cerebellar-coloboma syndrome, X-linked UMLS:C3275487 X-linked cerebral-cerebellar-coloboma 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. OMIM:300864 MONDO:0010464 GARD:0017006 MEDGEN:477118 X-linked intellectual disability, Kroes type Orphanet:163961 central nervous system malformation X-linked syndromic intellectual disability