cerebellar ataxia
Findings
No curated finding names cerebellar ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.
Definition from the Mondo Disease Ontology (MONDO:0000437), read 2026-09-29. CC BY 4.0.
Features
1 feature
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, hp/releases/2026-09-01.
- AtaxiaMondoHP:0001251
Genes
6 genes
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.
- NPTX1HGNC:7952
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PRDX3HGNC:9354
- Strong · PanelApp Australia · Autosomal recessive · 2025
- CA8HGNC:1382
- Moderate · ClinGen · Autosomal recessive · 2024
- MTCL1HGNC:29121
- Limited · LiferaOmics · Autosomal recessive · 2026
- TSEN54HGNC:27561
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: cerebellar ataxia
- Also called
- ataxia syndromecerebellar ataxiasspinocerebellar ataxiaspinocerebellar degeneration