spinocerebellar ataxia, autosomal recessive 31
MONDO:0030323Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 31 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 · Death in childhood
HPO, annotations 2026-09-02
Features
39 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
- 11 of 11 reported patients
- Delayed ability to walkHPOHP:0031936
- 10 of 10 reported patients
- TremorHPOHP:0001337
- 8 of 11 reported patients
- Optic atrophyHPOHP:0000648
- 7 of 11 reported patients
- StrabismusHPOHP:0000486
- 7 of 11 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 7 of 12 reported patients
- Posterior atrophy of corpus callosumHPOHP:0034007
- 7 of 12 reported patients
- Muscle weaknessHPOHP:0001324
- 5 of 11 reported patients
- Growth delayHPOHP:0001510
- 3 of 8 reported patients
- Axial hypotoniaHPOHP:0008936
- 4 of 11 reported patients
- Cerebral atrophyHPOHP:0002059
- 4 of 12 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 12 reported patients
Show the remaining 27
- EncephalopathyHPOHP:0001298
- 3 of 10 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 3 of 12 reported patients
- DysarthriaHPOHP:0001260
- 3 of 12 reported patients
- High palateHPOHP:0000218
- 3 of 12 reported patients
- Long faceHPOHP:0000276
- 3 of 12 reported patients
- Pectus excavatumHPOHP:0000767
- 2 of 10 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.
- ATG7HGNC:16935
- Strong · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia, autosomal recessive 31
- Also called
- SCAR31