spinocerebellar ataxia, autosomal recessive 32
MONDO:0859245Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 32 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
17 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
- 5 of 5 reported patients
- DysarthriaHPOHP:0001260
- 5 of 5 reported patients
- Gait ataxiaHPOHP:0002066
- 5 of 5 reported patients
- Limb ataxiaHPOHP:0002070
- 5 of 5 reported patients
- DysphagiaHPOHP:0002015
- 4 of 5 reported patients
- Hypermetric saccadesHPOHP:0007338
- 4 of 5 reported patients
- Saccadic smooth pursuit interruptionsHPOHP:0001152
- 4 of 5 reported patients
- Postural tremorHPOHP:0002174
- 2 of 5 reported patients
- TorticollisHPOHP:0000473
- 2 of 5 reported patients
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- 1 of 5 reported patients
- BradykinesiaHPOHP:0002067
- 1 of 5 reported patients
- Gaze-evoked nystagmusHPOHP:0000640
- 1 of 5 reported patients
Show the remaining 5
- Hypomimic faceHPOHP:0000338
- 1 of 5 reported patients
- Limb myoclonusHPOHP:0045084
- 1 of 5 reported patients
- PtosisHPOHP:0000508
- 1 of 5 reported patients
- Abnormal nerve conduction velocityHPOHP:0040129
- 0 of 5 reported patients
- Somatic sensory dysfunctionHPOHP:0003474
- 0 of 5 reported patients
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.
- PRDX3HGNC:9354
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Moderate · G2P · Autosomal recessive · 2022