spinocerebellar ataxia, autosomal recessive 26
MONDO:0033116Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 26 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
- Progressive · Late young adult onset
HPO, annotations 2026-09-02
Features
18 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.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient · Middle age onset
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- DysdiadochokinesisHPOHP:0002075
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient · Middle age onset
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Horizontal nystagmusHPOHP:0000666
- 1 of 1 reported patient
- Hypermetric saccadesHPOHP:0007338
- 1 of 1 reported patient
- Impaired distal proprioceptionHPOHP:0006858
- 1 of 1 reported patient
- Impaired distal vibration sensationHPOHP:0006886
- 1 of 1 reported patient
Show the remaining 6
- Limb ataxiaHPOHP:0002070
- 1 of 1 reported patient
- Oculomotor apraxiaHPOHP:0000657
- 1 of 1 reported patient
- Positive Romberg signHPOHP:0002403
- 1 of 1 reported patient
- Saccadic smooth pursuit interruptionsHPOHP:0001152
- 1 of 1 reported patient
- Sensorimotor neuropathyHPOHP:0007141
- 1 of 1 reported patient
- Unsteady gaitHPOHP:0002317
- 1 of 1 reported patient
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.
- XRCC1HGNC:12828
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018