combined oxidative phosphorylation deficiency 49
MONDO:0033569Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 49 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
12 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
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IIHPOHP:0008314
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Exercise intoleranceHPOHP:0003546
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- MyalgiaHPOHP:0003326
- 1 of 1 reported patient
- Progressive muscle weaknessHPOHP:0003323
- 1 of 1 reported patient
- Ragged-red muscle fibersHPOHP:0003200
- 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.
- MIEF2HGNC:17920
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of