Pontocerebellar Hypoplasia, Type 1a (PCH1A)

Pontocerebellar Hypoplasia, Type 1a, also known as pontocerebellar hypoplasia type 1a, is related to pontocerebellar hypoplasia, type 1e and pontocerebellar hypoplasia, type 8, and has symptoms including ataxia, muscular fasciculation and muscle weakness. An important gene associated with Pontocerebellar Hypoplasia, Type 1a is VRK1 (VRK Serine/Threonine Kinase 1), and among its related pathways/superpathways are RAC1 GTPase cycle and RAC2 GTPase cycle. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are ataxia and dysphagia