spinocerebellar ataxia 50
MONDO:0859334Mondo
Findings
No curated finding names spinocerebellar ataxia 50 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 · Middle age onset · 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.
- AtaxiaHPOHP:0001251
- 17 of 17 reported patients
- NystagmusHPOHP:0000639
- 13 of 16 reported patients
- Cerebellar atrophyHPOHP:0001272
- 5 of 12 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 3 of 12 reported patients
- MyoclonusHPOHP:0001336
- 4 of 17 reported patients
- DiplopiaHPOHP:0000651
- 3 of 16 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 17 reported patients
- ApraxiaHPOHP:0002186
- 2 of 16 reported patients
- Impaired executive functioningHPOHP:0033051
- 2 of 16 reported patients
- PtosisHPOHP:0000508
- 2 of 16 reported patients
- Memory impairmentHPOHP:0002354
- 1 of 16 reported patients
- Action tremorHPOHP:0002345
- 1 of 17 reported patients
Show the remaining 4
- ChoreaHPOHP:0002072
- 1 of 17 reported patients
- Froment signHPOHP:0032121
- 1 of 17 reported patients
- Head tremorHPOHP:0002346
- 1 of 17 reported patients
- Postural tremorHPOHP:0002174
- 1 of 17 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.
- NPTX1HGNC:7952
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of