Pontocerebellar Hypoplasia, Type 1e (PCH1E)

Pontocerebellar Hypoplasia, Type 1e, also known as pontocerebellar hypoplasia type 1, is related to pontocerebellar hypoplasia, type 1f and pontocerebellar hypoplasia, type 1d, and has symptoms including ataxia, muscular fasciculation and muscle weakness. An important gene associated with Pontocerebellar Hypoplasia, Type 1e is SLC25A46 (Solute Carrier Family 25 Member 46), and among its related pathways/superpathways are Cellular responses to stimuli and Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include spinal cord and brain, and related phenotypes are hypotonia and muscle weakness