spinocerebellar ataxia 49
MONDO:0030805Mondo
Findings
No curated finding names spinocerebellar ataxia 49 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
- Middle age onset · Juvenile onset · Late young adult onset
HPO, annotations 2026-09-02
Features
16 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
- Gaze-evoked nystagmusHPOHP:0000640
- 9 of 9 reported patients · Middle age onset
- HyperreflexiaHPOHP:0001347
- 9 of 9 reported patients
- AtaxiaHPOHP:0001251
- 7 of 9 reported patients
- DysmetriaHPOHP:0001310
- 7 of 9 reported patients
- DysarthriaHPOHP:0001260
- 5 of 9 reported patients
- Sensory axonal neuropathyHPOHP:0003390
- 5 of 9 reported patients
- DiplopiaHPOHP:0000651
- 4 of 9 reported patients
- Babinski signHPOHP:0003487
- 2 of 9 reported patients
- Loss of ambulationHPOHP:0002505
- 2 of 9 reported patients · Late onset
- StrabismusHPOHP:0000486
- 2 of 9 reported patients
- DysdiadochokinesisHPOHP:0002075
- 1 of 9 reported patients
Show the remaining 4
- Pes cavusHPOHP:0001761
- 1 of 9 reported patients
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- 0 of 9 reported patients
- DementiaHPOHP:0000726
- 0 of 9 reported patients
- Unsteady gaitHPOHP:0002317
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.
- SAMD9LHGNC:1349
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: spinocerebellar ataxia 49
- Also called
- SCA49