spinocerebellar ataxia, autosomal recessive 27
MONDO:0032706Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 27 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive · Late young adult onset
HPO, annotations 2026-09-02
Features
22 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.
- Brisk reflexesHPOHP:0001348
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- GliosisHPOHP:0002171
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- Jerky ocular pursuit movementsHPOHP:0008003
- 2 of 2 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 2 reported patients
- ApathyHPOHP:0000741
- 1 of 2 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 2 reported patients
- DepressionHPOHP:0000716
- 1 of 2 reported patients
- DysarthriaHPOHP:0001260
- 1 of 2 reported patients
- DysphagiaHPOHP:0002015
- 1 of 2 reported patients
- Frequent fallsHPOHP:0002359
- 1 of 2 reported patients
Show the remaining 10
- Gait ataxiaHPOHP:0002066
- 1 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 1 of 2 reported patients
- Gait imbalanceHPOHP:0002141
- 1 of 2 reported patients
- Gaze-evoked nystagmusHPOHP:0000640
- 1 of 2 reported patients
- Hypermetric saccadesHPOHP:0007338
- 1 of 2 reported patients
- Lower limb hypertoniaHPOHP:0006895
- 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.
- GDAP2HGNC:18010
- Strong · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018