Pontocerebellar hypoplasia type 5

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.

Also known as: PCH5, fetal-onset olivopontocerebellar hypoplasia, olivopontocerebellar hypoplasia fetal-onset, olivopontocerebellar hypoplasia, fetal-onset, pontocerebellar hypoplasia, type 5

1 clinical trial for this condition and its sub-types, 0 tagged with Pontocerebellar hypoplasia type 5 itself.