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ENPontocerebellar Hypoplasia, Type 1c (PCH1C)
Alias:
Pch1c
Pontocerebellar Hypoplasia Type 1c
Hypomyelination with Spinal Muscular Atrophy and Cerebellar Hypoplasia
Hypoplasia, Pontocerebellar, Type 1c
Pontocerebellar Hypoplasia 1c
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Pontocerebellar Hypoplasia, Type 1c, also known as pch1c, is related to pontocerebellar hypoplasia and pontocerebellar hypoplasia, type 1e. An important gene associated with Pontocerebellar Hypoplasia, Type 1c is EXOSC8 (Exosome Component 8), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Cellular responses to stimuli. Affiliated tissues include brain and spinal cord, and related phenotypes are respiratory insufficiency and global developmental delay
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