spinocerebellar ataxia, autosomal recessive 22
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 22 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 VWA3B gene.
Definition from the Mondo Disease Ontology (MONDO:0014845), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Abnormal pyramidal signHPOHP:0007256
- AtaxiaHPOHP:0001251
- Cerebellar atrophyHPOHP:0001272
- DysarthriaHPOHP:0001260
- DysmetriaHPOHP:0001310
- HyperreflexiaHPOHP:0001347
- Hypoplasia of the corpus callosumHPOHP:0002079
- Intention tremorHPOHP:0002080
- Lower limb spasticityHPOHP:0002061
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.
- VWA3BHGNC:28385
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Limited · PMGRC · Autosomal recessive · 2026
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: spinocerebellar ataxia, autosomal recessive 22
- Also called
- autosomal recessive cerebellar ataxia caused by mutation in VWA3BSCAR22spinocerebellar ataxia, autosomal recessive 22; SCAR22spinocerebellar ataxia, autosomal recessive type 22VWA3B autosomal recessive cerebellar ataxia