spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
MONDO:0020770Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 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 · Childhood onset
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.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Demyelinating sensory neuropathyHPOHP:0011402
- 1 of 1 reported patient
- Distal amyotrophyHPOHP:0003693
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- Limb muscle weaknessHPOHP:0003690
- 1 of 1 reported patient · Juvenile onset
- TremorHPOHP:0001337
- 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.
- COA7HGNC:25716
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2020