Pontocerebellar hypoplasia
Pontocerebellar hypoplasia
Definition
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.
Also known as PCH, pontocerebellar hypoplasia, pontoneocerebellar atrophy, pontoneocerebllar hypoplasia — per MONDO