Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern. The disease is pontocerebellar hypoplasia (MONDO_0020135). Also known as: PCH, pontoneocerebellar atrophy, pontoneocerebllar hypoplasia.