Pontocerebellar Hypoplasia, Type 1f (PCH1F)

Pontocerebellar Hypoplasia, Type 1f, also known as pch1f, is related to pontocerebellar hypoplasia and pontocerebellar hypoplasia, type 1c. An important gene associated with Pontocerebellar Hypoplasia, Type 1f is EXOSC1 (Exosome Component 1), and among its related pathways/superpathways are rRNA processing in the nucleus and cytosol and Unfolded Protein Response (UPR). Affiliated tissues include pons and brain, and related phenotypes are hypotonia and global developmental delay