mitochondrial complex IV deficiency, nuclear type 1
MONDO:0700250Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 1 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
12 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
- 2 of 2 reported patients
- Brisk reflexesHPOHP:0001348
- 11 of 11 reported patients
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 15 of 15 reported patients
- Developmental regressionHPOHP:0002376
- 13 of 13 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 11 of 11 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Lactic acidosisHPOHP:0003128
- 13 of 13 reported patients
- OphthalmoparesisHPOHP:0000597
- 2 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 2 reported patients
- Respiratory failureHPOHP:0002878
- 2 of 2 reported patients
- Truncal ataxiaHPOHP:0002078
- 11 of 11 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.