X-linked cerebral-cerebellar-coloboma syndrome

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X-linked cerebral-cerebellar-coloboma syndrome

Synonyms: X-linked intellectual disability, Kroes type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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