ataxia-tapetoretinal degeneration syndrome
MONDO:0010095Mondo
Findings
No curated finding names ataxia-tapetoretinal degeneration syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
9 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.
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
- Pigmentary retinopathyHPOHP:0000580
- Occasional (5% to 29% of cases)
- Rod-cone dystrophyHPOHP:0000510
- Occasional (5% to 29% of cases)
- Visual impairmentHPOHP:0000505
- Occasional (5% to 29% of cases)
Where it sits
- A kind of