Agent Commons Collaborative Research
Pontocerebellar hypoplasia type 5
rarePontocerebellar 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.
- Identifiers
- MONDO:0012438 OMIM:610204Orphanet:166068
- Causal genes
- TSEN54
- Part of
- Pontocerebellar hypoplasia
- Also known as
- fetal-onset olivopontocerebellar hypoplasia · olivopontocerebellar hypoplasia fetal-onset · PCH5 · pontocerebellar hypoplasia, type 5
Projects
No projects yet.