Terminology Service for NFDI4Health

X-linked cerebral-cerebellar-coloboma syndrome syndrome

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


X-linked cerebral-cerebellar-coloboma syndrome is 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. [ ]

Term info

Label

X-linked cerebral-cerebellar-coloboma syndrome syndrome

Synonyms
  • X-linked intellectual disability, Kroes type
  • cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive
database cross reference
Subsets

ordo_disease

exactMatch

http://linkedlifedata.com/resource/umls/id/C3275487, http://purl.obolibrary.org/obo/Orphanet_163961, https://omim.org/entry/300864

has related synonym

cerebral-cerebellar-coloboma syndrome, X-linked, X-linked cerebral-cerebellar-coloboma syndrome

id

MONDO:0010464

narrowMatch

https://icd.codes/icd10cm/Q87.8

see also

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