Mondo Description 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.

Disease Ontology Description A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.