spinocerebellar ataxia 45
MONDO:0033480Mondo
Findings
No curated finding names spinocerebellar ataxia 45 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
- Middle age onset · Slowly progressive
HPO, annotations 2026-09-02
Features
5 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.
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Downbeat nystagmusHPOHP:0010545
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Limb ataxiaHPOHP:0002070
- 1 of 1 reported patient
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.
- FAT2HGNC:3596
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Illumina · Autosomal dominant · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017