spinocerebellar ataxia 52
MONDO:0981162Mondo
Findings
No curated finding names spinocerebellar ataxia 52 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
- Late onset · Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
68 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.
- Abolished vibration senseHPOHP:0006944
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 7 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 3 reported patients
- Borderline intellectual disabilityHPOHP:0006889
- 1 of 1 reported patient
- Broad-based gaitHPOHP:0002136
- 8 of 8 reported patients
- Cerebellar atrophyHPOHP:0001272
- 21 of 21 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 2 of 2 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 3 of 3 reported patients
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- DepressionHPOHP:0000716
- 2 of 2 reported patients
- DiplopiaHPOHP:0000651
- 1 of 1 reported patient
Show the remaining 56
- ExophoriaHPOHP:0025313
- 1 of 1 reported patient
- Freezing of gaitHPOHP:0031825
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 14 of 14 reported patients
- HallucinationsHPOHP:0000738
- 2 of 2 reported patients
- Hand tremorHPOHP:0002378
- 1 of 1 reported patient
- Horizontal nystagmusHPOHP:0000666
- 8 of 8 reported patients
Where it sits
- A kind of