Catalog

Pontocerebellar hypoplasia type 5

No MMS code

Link to WHO Definition

Pontocerebellar hypoplasia type 5 – http://id.who.int/icd/entity/1962551792

Pontocerebellar hypoplasia type 5 is a very rare severe form of pontocerebellar hypoplasia with prenatal onset. It is characterised 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.