/pontocerebellar hypoplasia type 5

pontocerebellar hypoplasia type 5

Rare Disease

MONDO:0012438

Also Known As

PCH5fetal-onset olivopontocerebellar hypoplasiaolivopontocerebellar hypoplasia fetal-onsetolivopontocerebellar hypoplasia, fetal-onsetpontocerebellar hypoplasia, type 5

Definition

Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.