spinocerebellar ataxia 48
MONDO:0032526Mondo
Findings
No curated finding names spinocerebellar ataxia 48 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
- Adult onset · Progressive
HPO, annotations 2026-09-02
Features
20 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
- 8 of 8 reported patients
- DepressionHPOHP:0000716
- 8 of 8 reported patients
- Mental deteriorationHPOHP:0001268
- 8 of 8 reported patients
- DysarthriaHPOHP:0001260
- 14 of 17 reported patients
- AnxietyHPOHP:0000739
- 15 of 19 reported patients
- HyperreflexiaHPOHP:0001347
- 6 of 8 reported patients
- Cerebellar atrophyHPOHP:0001272
- 11 of 17 reported patients
- ParkinsonismHPOHP:0001300
- 5 of 8 reported patients
- DysphagiaHPOHP:0002015
- 10 of 17 reported patients
- ChoreaHPOHP:0002072
- 4 of 8 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 8 reported patients
- DystoniaHPOHP:0001332
- 3 of 8 reported patients
Show the remaining 8
- Urinary incontinenceHPOHP:0000020
- 3 of 9 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 8 reported patients
- TremorHPOHP:0001337
- 2 of 8 reported patients
- CachexiaHPOHP:0004326
- 2 of 9 reported patients
- Babinski signHPOHP:0003487
- 1 of 9 reported patients
- DysmetriaHPOHP:0001310
- InsomniaHPOHP:0100785
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.
- STUB1HGNC:11427
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of