mitochondrial complex IV deficiency, nuclear type 3
MONDO:0033635Mondo
Findings
No curated finding names mitochondrial complex IV 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
- Death in infancy · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
26 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.
- AgitationHPOHP:0000713
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 3 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Focal T2 hyperintense thalamic lesionHPOHP:0012692
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- 2 of 2 reported patients · Neonatal onset
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Increased CSF lactateHPOHP:0002490
- 2 of 2 reported patients
- Lactic acidosisHPOHP:0003128
- 2 of 2 reported patients
- Metabolic acidosisHPOHP:0001942
- 1 of 2 reported patients · Neonatal onset
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
Show the remaining 14
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Persistent head lagHPOHP:0032988
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Reduced eye contactHPOHP:0000817
- 1 of 1 reported patient
- Status epilepticusHPOHP:0002133
- 1 of 1 reported patient
- CardiomyopathyHPOHP:0001638
- 1 of 2 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.
- COX10HGNC:2260
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: mitochondrial complex IV deficiency, nuclear type 3
- Also called
- MC4DN3