combined oxidative phosphorylation defect type 7
Findings
No curated finding names combined oxidative phosphorylation defect type 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.
Definition from the Mondo Disease Ontology (MONDO:0013306), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
53 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.
- Developmental regressionHPOHP:0002376
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Facial diplegiaHPOHP:0001349
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
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.
- MTRFRHGNC:26784
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
6 names
Resolves to: combined oxidative phosphorylation defect type 7
- Also called
- C12ORF65 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation deficiency caused by mutation in C12ORF65combined oxidative phosphorylation deficiency type 7COXPD7severe C12ORF65-related combined oxidative phosphorylation defectsevere C12ORF65-related COXPD