spinocerebellar ataxia 44
MONDO:0033479Mondo
Findings
No curated finding names spinocerebellar ataxia 44 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
- Slowly progressive
HPO, annotations 2026-09-02
Features
14 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.
- AtaxiaHPOHP:0001251
- 7 of 7 reported patients
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- DysdiadochokinesisHPOHP:0002075
- 2 of 2 reported patients
- DysmetriaHPOHP:0001310
- 2 of 2 reported patients
- Gait ataxiaHPOHP:0002066
- 3 of 3 reported patients
- Hypermetric saccadesHPOHP:0007338
- 1 of 1 reported patient
- Frequent fallsHPOHP:0002359
- 3 of 7 reported patients
- TinnitusHPOHP:0000360
- 3 of 7 reported patients
- Brisk reflexesHPOHP:0001348
- 1 of 7 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 7 reported patients
- DysarthriaHPOHP:0001260
- 1 of 7 reported patients
- DysphagiaHPOHP:0002015
- 1 of 7 reported patients
Show the remaining 2
- Motor delayHPOHP:0001270
- 1 of 7 reported patients
- SpasticityHPOHP:0001257
- 1 of 7 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.
- GRM1HGNC:4593
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of