Pontocerebellar Hypoplasia, Type 2f (PCH2F)

Pontocerebellar Hypoplasia, Type 2f, also known as pch2f, is related to pontocerebellar hypoplasia, type 3 and peho syndrome. An important gene associated with Pontocerebellar Hypoplasia, Type 2f is TSEN15 (TRNA Splicing Endonuclease Subunit 15), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and RNA Polymerase III Transcription Initiation. Affiliated tissues include pons and cerebellum, and related phenotypes are intellectual disability and global developmental delay