Catalog
Pontocerebellar hypoplasia
Link to WHO Definition
Pontocerebellar hypoplasia – http://id.who.int/icd/entity/1565266279
Nonsyndromic pontocerebellar hypoplasias are a rare heterogeneous group of diseases characterised 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.