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.
MONDO:0020135
pontocerebellar hypoplasia
is_a
PCH5
exact
fetal-onset olivopontocerebellar hypoplasia
exact
olivopontocerebellar hypoplasia fetal-onset
related
pontocerebellar hypoplasia, type 5
related
SPCC613.09