combined oxidative phosphorylation deficiency 45
MONDO:0033533Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 45 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
19 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 cerebral white matter morphologyHPOHP:0002500
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Cardiac arrestHPOHP:0001695
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Horizontal nystagmusHPOHP:0000666
- 1 of 1 reported patient
Show the remaining 7
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Round faceHPOHP:0000311
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Short neckHPOHP:0000470
- 1 of 1 reported patient
Genes
2 genes
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.