Pontocerebellar Hypoplasia, Type 1b (PCH1B)

Pontocerebellar Hypoplasia, Type 1b, also known as pontocerebellar hypoplasia type 1b, is related to non-syndromic pontocerebellar hypoplasia and pontocerebellar hypoplasia, and has symptoms including muscle spasticity and muscle weakness. An important gene associated with Pontocerebellar Hypoplasia, Type 1b is EXOSC3 (Exosome Component 3), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Cellular responses to stimuli. Affiliated tissues include spinal cord and tongue, and related phenotypes are seizure and retinal dystrophy