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ENPontocerebellar Hypoplasia, Type 8 (PCH8)
Alias:
Pontocerebellar Hypoplasia Type 8
Pch8
Pontocerebellar Hypoplasia Due to Chmp1a Mutation
Hypoplasia, Pontocerebellar, Type 8
Pontocerebellar Hypoplasia 8
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Pontocerebellar Hypoplasia, Type 8, also known as pontocerebellar hypoplasia type 8, is related to pontocerebellar hypoplasia and cerebellar hypoplasia. An important gene associated with Pontocerebellar Hypoplasia, Type 8 is CHMP1A (Charged Multivesicular Body Protein 1A). Affiliated tissues include brain and cerebellum, and related phenotypes are global developmental delay and reduced cerebral white matter volume
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