autosomal recessive spinocerebellar ataxia 16
Findings
No curated finding names autosomal recessive spinocerebellar ataxia 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014339), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
56 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
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Limb ataxiaHPOHP:0002070
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Truncal ataxiaHPOHP:0002078
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- 4 of 6 reported patients
- Frequent (30% to 79% of cases)
- Abnormal motor evoked potentialsHPOHP:0012896
Show the remaining 44
- Unsteady gaitHPOHP:0002317
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- 3 of 6 reported patients
- Cognitive impairmentHPOHP:0100543
- 3 of 6 reported patients
- Occasional (5% to 29% of cases)
- Abnormal speech patternHPOHP:0002167
- Occasional (5% to 29% of cases)
- Ankle clonusHPOHP:0011448
- Occasional (5% to 29% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Occasional (5% to 29% of cases)
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 recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: autosomal recessive spinocerebellar ataxia 16
- Also called
- autosomal recessive cerebellar ataxia caused by mutation in STUB1autosomal recessive spinocerebellar ataxia type 16SCAR16spinocerebellar ataxia autosomal recessive type 16spinocerebellar ataxia, autosomal recessive type 16STUB1 autosomal recessive cerebellar ataxia