spastic ataxia 11, autosomal dominant
MONDO:0979230Mondo
Findings
No curated finding names spastic ataxia 11, autosomal dominant 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 · Infantile onset · Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
38 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.
- Abnormal motor evoked potentialsHPOHP:0012896
- 6 of 6 reported patients
- Abnormality of somatosensory evoked potentialsHPOHP:0007377
- 6 of 6 reported patients
- Gait disturbanceHPOHP:0001288
- 19 of 19 reported patients
- Hyperactive patellar reflexHPOHP:0007083
- 12 of 12 reported patients
- Lower limb hypertoniaHPOHP:0006895
- 12 of 12 reported patients
- Spastic ataxiaHPOHP:0002497
- 3 of 3 reported patients
- Spastic gaitHPOHP:0002064
- 2 of 2 reported patients
- DysdiadochokinesisHPOHP:0002075
- 7 of 8 reported patients
- Difficulty standingHPOHP:0003698
- 6 of 7 reported patients
- DysarthriaHPOHP:0001260
- 16 of 20 reported patients
- NystagmusHPOHP:0000639
- 16 of 21 reported patients
- Ankle clonusHPOHP:0011448
- 15 of 20 reported patients
Show the remaining 26
- Babinski signHPOHP:0003487
- 18 of 24 reported patients
- Cerebellar atrophyHPOHP:0001272
- 15 of 20 reported patients
- DysmetriaHPOHP:0001310
- 14 of 19 reported patients
- Saccadic smooth pursuit interruptionsHPOHP:0001152
- 13 of 18 reported patients
- AtaxiaHPOHP:0001251
- 3 of 5 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 12 of 23 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.
- TUBA4AHGNC:12407
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of