Pontocerebellar Hypoplasia, Type 1d (PCH1D)

Pontocerebellar Hypoplasia, Type 1d, also known as pch1d, is related to pontocerebellar hypoplasia and pontocerebellar hypoplasia, type 1e. An important gene associated with Pontocerebellar Hypoplasia, Type 1d is EXOSC9 (Exosome Component 9), and among its related pathways/superpathways are Cellular responses to stimuli and Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and weak cry