Pontocerebellar Hypoplasia (PCH)

Pontocerebellar Hypoplasia, also known as congenital pontocerebellar hypoplasia, is related to pontocerebellar hypoplasia, type 2e and pontocerebellar hypoplasia, type 1e. An important gene associated with Pontocerebellar Hypoplasia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and tRNA processing. Affiliated tissues include pons and cerebellum, and related phenotype is mortality/aging.