Pontocerebellar Hypoplasia, Type 2e (PCH2E)

Pontocerebellar Hypoplasia, Type 2e, also known as pontocerebellar hypoplasia type 2, is related to pontocerebellar hypoplasia, type 2a and pontocerebellar hypoplasia, type 2f, and has symptoms including muscle spasticity, seizures and opisthotonus. An important gene associated with Pontocerebellar Hypoplasia, Type 2e is VPS53 (VPS53 Subunit Of GARP Complex), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include brain and pons, and related phenotypes are seizure and generalized myoclonic seizure