mitochondrial complex IV deficiency, nuclear type 14
MONDO:0033649Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
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.
- Cognitive impairmentHPOHP:0100543
- 1 of 1 reported patient
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Exercise intoleranceHPOHP:0003546
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- ObesityHPOHP:0001513
- 1 of 1 reported patient
- Sensorimotor neuropathyHPOHP:0007141
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
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.
- COA3HGNC:24990
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
1 name
Resolves to: mitochondrial complex IV deficiency, nuclear type 14
- Also called
- MC4DN14