combined oxidative phosphorylation deficiency 40
MONDO:0030006Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 40 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
- Death in infancy · Neonatal death
HPO, annotations 2026-09-02
Features
14 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 · Infantile onset
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient · Infantile onset
- Hypertrophic cardiomyopathyHPOHP:0001639
- 9 of 9 reported patients · Infantile onset
- Lactic acidosisHPOHP:0003128
- 9 of 9 reported patients · Infantile onset
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 6 of 7 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 6 of 7 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 4 of 7 reported patients
- Decreased liver functionHPOHP:0001410
- 5 of 9 reported patients · Infantile onset
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 9 reported patients · Infantile onset
- Decreased circulating cortisol levelHPOHP:0008163
- 1 of 2 reported patients · Infantile onset
- Nonimmune hydrops fetalisHPOHP:0001790
- 3 of 9 reported patients · Antenatal onset
- HypoglycemiaHPOHP:0001943
- 2 of 9 reported patients · Infantile onset
Show the remaining 2
- Intrauterine growth retardationHPOHP:0001511
- 2 of 9 reported patients · Antenatal onset
- Premature birthHPOHP:0001622
- 2 of 9 reported patients · Congenital onset
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.
- QRSL1HGNC:21020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: combined oxidative phosphorylation deficiency 40
- Also called
- COXPD40