spinocerebellar ataxia 46
MONDO:0033481Mondo
Findings
No curated finding names spinocerebellar ataxia 46 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Slowly progressive
HPO, annotations 2026-09-02
Features
7 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 atrophyHPOHP:0001272
- DysarthriaHPOHP:0001260
- Gait ataxiaHPOHP:0002066
- Jerky ocular pursuit movementsHPOHP:0008003
- Limb ataxiaHPOHP:0002070
- Sensory axonal neuropathyHPOHP:0003390
- Slow saccadic eye movementsHPOHP:0000514
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.
- PLD3HGNC:17158
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017