autosomal recessive spinocerebellar ataxia 14
Findings
No curated finding names autosomal recessive spinocerebellar ataxia 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
Definition from the Mondo Disease Ontology (MONDO:0014159), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
23 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.
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- DysdiadochokinesisHPOHP:0002075
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Hypometric saccadesHPOHP:0000571
- 3 of 3 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.
- SPTBN2HGNC:11276
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
11 names
Resolves to: autosomal recessive spinocerebellar ataxia 14
- Also called
- Ataxie spinocérébelleuse à début infantile avec retard psychomoteurautosomal recessive cerebellar ataxia caused by mutation in SPTBN2autosomal recessive cerebellar ataxia-cognitive defect syndromeautosomal recessive spinocerebellar ataxia type 14infantile-onset spinocerebellar ataxia-psychomotor delay syndromeSCAR14SPARCASPARCA1spectrin-associated autosomal recessive cerebellar ataxia type 1spinocerebellar ataxia, autosomal recessive type 14SPTBN2 autosomal recessive cerebellar ataxia