Pontocerebellar Hypoplasia, Type 2d (PCH2D)

Pontocerebellar Hypoplasia, Type 2d, also known as pontocerebellar hypoplasia type 2d, is related to pontocerebellar hypoplasia, type 2e and quadriplegia, and has symptoms including clonus, seizures and sleep disturbances. An important gene associated with Pontocerebellar Hypoplasia, Type 2d is SEPSECS (Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase), and among its related pathways/superpathways are Detoxification of Reactive Oxygen Species and Selenium Metabolism and Selenoproteins. Affiliated tissues include brain and cerebellum, and related phenotypes are seizure and global developmental delay