mitochondrial complex I deficiency, nuclear type 3
MONDO:0032608Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 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
- Progressive · Death in childhood
HPO, annotations 2026-09-02
Features
4 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 2 reported patients
- DysarthriaHPOHP:0001260
- 1 of 2 reported patients
- Episodic vomitingHPOHP:0002572
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
Genes
2 genes
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.