infantile-onset autosomal recessive nonprogressive cerebellar ataxia
MONDO:0011950Mondo
Findings
No curated finding names infantile-onset autosomal recessive nonprogressive cerebellar ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Broad-based gaitHPOHP:0002136
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Cerebellar vermis atrophyHPOHP:0006855
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
Show the remaining 6
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Pes planusHPOHP:0001763
- Frequent (30% to 79% of cases)
- Progressive gait ataxiaHPOHP:0007240
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Intention tremorHPOHP:0002080
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: infantile-onset autosomal recessive nonprogressive cerebellar ataxia
- Also called
- autosomal recessive spinocerebellar ataxia type 6SCAR6