spinocerebellar ataxia 27A
MONDO:0008654Mondo
Findings
No curated finding names spinocerebellar ataxia 27A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
10 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.
- Gaze-evoked nystagmusHPOHP:0000640
- 12 of 14 reported patients
- Limb ataxiaHPOHP:0002070
- 12 of 14 reported patients
- DysarthriaHPOHP:0001260
- 11 of 14 reported patients
- Gait ataxiaHPOHP:0002066
- 11 of 14 reported patients
- Impaired vibratory sensationHPOHP:0002495
- 9 of 14 reported patients
- Orofacial dyskinesiaHPOHP:0002310
- 8 of 14 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 9 reported patients
- Pes cavusHPOHP:0001761
- 3 of 17 reported patients
- DepressionHPOHP:0000716
- 2 of 14 reported patients
- Postural tremorHPOHP:0002174
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.
- FGF14HGNC:3671
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: spinocerebellar ataxia 27A
- Also called
- NYS4NYSTAGMUS 4, congenital, autosomal dominant