spinocerebellar ataxia type 13
Findings
No curated finding names spinocerebellar ataxia type 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.
Definition from the Mondo Disease Ontology (MONDO:0011529), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
34 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.
- Gait ataxiaHPOHP:0002066
- 12 of 12 reported patients
- Frequent (30% to 79% of cases)
- Limb ataxiaHPOHP:0002070
- 12 of 12 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 10 of 12 reported patients
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- 14 of 21 reported patients
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
Show the remaining 22
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- 0 of 21 reported patients
- Frequent (30% to 79% of cases)
- TitubationHPOHP:0030187
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- 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.
- KCNC3HGNC:6235
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia type 13
- Also called
- SCA13