dystonia, early-onset, and/or spastic paraplegia
MONDO:0859215Mondo
Findings
No curated finding names dystonia, early-onset, and/or spastic paraplegia 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
- Adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- DystoniaHPOHP:0001332
- Gait disturbanceHPOHP:0001288
- HyperreflexiaHPOHP:0001347
- Laryngeal dystoniaHPOHP:0012049
- Lower limb muscle weaknessHPOHP:0007340
- Spastic paraplegiaHPOHP:0001258
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.
- ATP5MC3HGNC:843
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of