spinocerebellar ataxia, autosomal recessive 25
MONDO:0033115Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 25 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
- Infantile onset · Nonprogressive
HPO, annotations 2026-09-02
Features
9 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.
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Brisk reflexesHPOHP:0001348
- 2 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- DysmetriaHPOHP:0001310
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Horizontal nystagmusHPOHP:0000666
- 2 of 2 reported patients
- Truncal ataxiaHPOHP:0002078
- 2 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.
- ATG5HGNC:589
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · ClinGen · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018