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X-linked cerebral-cerebellar-coloboma syndrome syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010464

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. [ Orphanet:163961 ]

Synonyms: X-linked intellectual disability, Kroes type cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_163961

http://linkedlifedata.com/resource/umls/id/C3275487

https://omim.org/entry/300864

http://identifiers.org/medgen/477118

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020119

has related synonym

cerebral-cerebellar-coloboma syndrome, X-linked

X-linked cerebral-cerebellar-coloboma syndrome

id

MONDO:0010464

term tracker item

https://github.com/monarch-initiative/mondo/issues/4521