pontocerebellar hypoplasia type 5
Findings
No curated finding names pontocerebellar hypoplasia type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012438), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TSEN54HGNC:27561
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia type 5
- Also called
- fetal-onset olivopontocerebellar hypoplasiaPCH5