mitochondrial complex IV deficiency, nuclear type 18
MONDO:0033653Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 18 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
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
10 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.
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- High palateHPOHP:0000218
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Increased circulating pyruvate concentrationHPOHP:0003542
- 1 of 1 reported patient
- Increased intramyocellular lipid dropletsHPOHP:0012240
- 2 of 2 reported patients
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 2 of 2 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 1 of 2 reported patients · Congenital onset
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.
- COX6A2HGNC:2279
- Limited · Ambry Genetics · Autosomal recessive · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: mitochondrial complex IV deficiency, nuclear type 18
- Also called
- MC4DN18