LD20.01
Pontocerebellar hypoplasia
Hipoplasia pontocerebelar
CategoryDefinition
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.
Index Terms
Pontocerebellar hypoplasiaNonsyndromic pontocerebellar hypoplasiaPontocerebellar hypoplasia type 1Pontocerebellar hypoplasia type 2Pontocerebellar hypoplasia type 3Pontocerebellar hypoplasia type 4Pontocerebellar hypoplasia type 5Pontocerebellar hypoplasia type 6