combined oxidative phosphorylation deficiency 37
MONDO:0032679Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 37 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
- Congenital onset · Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
36 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.
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 5 of 5 reported patients
- Bile duct proliferationHPOHP:0001408
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 4 of 4 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Chorioretinal hyperpigmentationHPOHP:0040031
- 1 of 1 reported patient
- Decreased liver functionHPOHP:0001410
- 2 of 2 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 3 of 3 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HyperalaninemiaHPOHP:0003348
- 2 of 2 reported patients
Show the remaining 24
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- HypoalbuminemiaHPOHP:0003073
- 1 of 1 reported patient
- HypoglycemiaHPOHP:0001943
- 3 of 3 reported patients
- HypothermiaHPOHP:0002045
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients