combined oxidative phosphorylation deficiency 41
MONDO:0030007Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 41 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
10 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.
- AnemiaHPOHP:0001903
- 7 of 7 reported patients
- CardiomegalyHPOHP:0001640
- 9 of 9 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 9 of 9 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 9 reported patients
- Decreased circulating cortisol levelHPOHP:0008163
- 1 of 2 reported patients
- Nonimmune hydrops fetalisHPOHP:0001790
- 3 of 9 reported patients · Fetal onset
- HypoglycemiaHPOHP:0001943
- 2 of 9 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 9 reported patients · Fetal onset
- Premature birthHPOHP:0001622
- 2 of 9 reported patients
Where it sits
Other names
1 name
Resolves to: combined oxidative phosphorylation deficiency 41
- Also called
- COXPD41