Pontocerebellar Hypoplasia, Type 2a (PCH2A)

Pontocerebellar Hypoplasia, Type 2a, also known as pontocerebellar hypoplasia type 2a, is related to pontocerebellar hypoplasia, type 2e and pontocerebellar hypoplasia, type 2f, and has symptoms including muscle spasticity, seizures and opisthotonus. An important gene associated with Pontocerebellar Hypoplasia, Type 2a is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways are RNA Polymerase III Transcription Initiation and tRNA processing. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are cerebral cortical atrophy and progressive microcephaly