Disease - Pontocerebellar hypoplasia 5
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Definition
A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum.
Acronym
PCH5
Synonyms
Olivopontocerebellar hypoplasia, fetal-onset
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 5