autosomal recessive spinocerebellar ataxia 11
Findings
No curated finding names autosomal recessive spinocerebellar ataxia 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.
Definition from the Mondo Disease Ontology (MONDO:0013645), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
15 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
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Limb ataxiaHPOHP:0002070
Show the remaining 3
- Unsteady gaitHPOHP:0002317
- Frequent (30% to 79% of cases)
- Cerebellar vermis atrophyHPOHP:0006855
- 1 of 2 reported patients
- Impaired smooth pursuitHPOHP:0007772
- 1 of 2 reported patients
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.
- SYT14HGNC:23143
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: autosomal recessive spinocerebellar ataxia 11
- Also called
- autosomal recessive spinocerebellar ataxia type 11autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14SCAR11spinocerebellar ataxia, autosomal recessive type 11SYT14 autosomal recessive syndromic cerebellar ataxia