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ENPontocerebellar Hypoplasia, Type 12 (PCH12)
Alias:
Pch12
Pontocerebellar Hypoplasia Type 12
Coasy-Related Pontocerebellar Hypoplasia
Hypoplasia, Pontocerebellar, Type 12
Pontocerebellar Hypoplasia 12
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Pontocerebellar Hypoplasia, Type 12, also known as pch12, is related to pontocerebellar hypoplasia and corpus callosum, agenesis of. An important gene associated with Pontocerebellar Hypoplasia, Type 12 is COASY (Coenzyme A Synthase), and among its related pathways/superpathways are G12-G13 in Cellular Signaling and S-1P Stimulated Signaling. Affiliated tissues include brain and spinal cord, and related phenotypes are cerebellar hypoplasia and sloping forehead
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