pontocerebellar hypoplasia type 2C
Findings
No curated finding names pontocerebellar hypoplasia type 2C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.
Definition from the Mondo Disease Ontology (MONDO:0012891), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar hemisphere hypoplasiaHPOHP:0100307
- Cerebellar vermis hypoplasiaHPOHP:0001320
- ChoreaHPOHP:0002072
- DystoniaHPOHP:0001332
- MicrocephalyHPOHP:0000252
- Visual impairmentHPOHP:0000505
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.
- TSEN34HGNC:15506
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · G2P · Autosomal recessive · 2026
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: pontocerebellar hypoplasia type 2C
- Also called
- non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34TSEN34 non-syndromic pontocerebellar hypoplasia