Pontocerebellar Hypoplasia, Type 3 (PCH3)

Pontocerebellar Hypoplasia, Type 3, also known as pontocerebellar hypoplasia type 3, is related to pontocerebellar hypoplasia and tetralogy of fallot, and has symptoms including muscle spasticity and seizures. An important gene associated with Pontocerebellar Hypoplasia, Type 3 is PCLO (Piccolo Presynaptic Cytomatrix Protein), and among its related pathways/superpathways is 1p36 copy number variation syndrome. The drugs Decitabine and Sorafenib have been mentioned in the context of this disorder. Affiliated tissues include cerebellum and pons, and related phenotypes are seizure and hyperreflexia