spinocerebellar ataxia, autosomal recessive 23
MONDO:0014846Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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 facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Childhood onset
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- BrachycephalyHPOHP:0000248
- Occasional (5% to 29% of cases)
- Generalized hypotoniaHPOHP:0001290
- 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.
- TDP2HGNC:17768
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: spinocerebellar ataxia, autosomal recessive 23
- Also called
- autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiencySCAR23spinocerebellar ataxia autosomal recessive type 23spinocerebellar ataxia, autosomal recessive type 23