spinocerebellar ataxia 7
MONDO:0016163Mondo
Findings
No curated finding names spinocerebellar ataxia 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
35 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.
- AtaxiaHPOHP:0001251
- Obligate (100% of cases)
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- Obligate (100% of cases)
- DysmetriaHPOHP:0001310
- Obligate (100% of cases)
- HyperreflexiaHPOHP:0001347
- Obligate (100% of cases)
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- 2 of 2 reported patients
- TremorHPOHP:0001337
- 2 of 2 reported patients
- Cone/cone-rod dystrophyHPOHP:0000548
- Very frequent (80% to 99% of cases)
- DysphagiaHPOHP:0002015
- Very frequent (80% to 99% of cases)
- Abnormal fundus morphologyHPOHP:0001098
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
Show the remaining 23
- Cerebral atrophyHPOHP:0002059
- Frequent (30% to 79% of cases)
- Congestive heart failureHPOHP:0001635
- Frequent (30% to 79% of cases)
- DysdiadochokinesisHPOHP:0002075
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
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.
- ATXN7HGNC:10560
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
10 names
Resolves to: spinocerebellar ataxia 7
- Also called
- ADCA2ADCAIIataxia with pigmentary retinopathyATXN7 autosomal dominant cerebellar ataxia type IIautosomal dominant cerebellar ataxia type 2autosomal dominant cerebellar ataxia type IIautosomal dominant cerebellar ataxia type II caused by mutation in ATXN7cerebellar syndrome-pigmentary maculopathy syndromeSCA7spinocerebellar ataxia type 7