mitochondrial complex IV deficiency, nuclear type 10
MONDO:0033639Mondo
Findings
No curated finding names mitochondrial complex IV deficiency, nuclear type 10 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
14 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.
- Abnormal CNS myelinationHPOHP:0011400
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- HypotelorismHPOHP:0000601
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- KetonuriaHPOHP:0002919
- 1 of 1 reported patient
- Metabolic acidosisHPOHP:0001942
- 1 of 1 reported patient
- MicrophthalmiaHPOHP:0000568
- 1 of 1 reported patient
- Neonatal respiratory distressHPOHP:0002643
- 1 of 1 reported patient
- OligohydramniosHPOHP:0001562
- 1 of 1 reported patient
Show the remaining 2
- Renal hypoplasiaHPOHP:0000089
- 1 of 1 reported patient
- Single transverse palmar creaseHPOHP:0000954
- 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.
- COX14HGNC:28216
- Limited · G2P · Autosomal recessive · 2015
Where it sits
Other names
1 name
Resolves to: mitochondrial complex IV deficiency, nuclear type 10
- Also called
- MC4DN10