combined oxidative phosphorylation defect type 15
Findings
No curated finding names combined oxidative phosphorylation defect type 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.
Definition from the Mondo Disease Ontology (MONDO:0013987), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 3 of 3 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Increased CSF lactateHPOHP:0002490
- 3 of 3 reported patients
- Progressive neurologic deteriorationHPOHP:0002344
- 3 of 3 reported patients
- Reduced visual acuityHPO
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.
- MTFMTHGNC:29666
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: combined oxidative phosphorylation defect type 15
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in MTFMTcombined oxidative phosphorylation deficiency type 15COXPD15MTFMT combined oxidative phosphorylation deficiency