combined oxidative phosphorylation deficiency 43
MONDO:0030017Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 43 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
13 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.
- Acetabular dysplasiaHPOHP:0008807
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 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
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient · Infantile onset
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Neonatal hypotoniaHPOHP:0001319
- 1 of 1 reported patient · Neonatal onset
- Projectile vomitingHPOHP:0002587
- 1 of 1 reported patient
Show the remaining 1
- Small for gestational ageHPOHP:0001518
- 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.
- TIMM22HGNC:17317
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · G2P · Autosomal recessive · 2026
Where it sits
Other names
1 name
Resolves to: combined oxidative phosphorylation deficiency 43
- Also called
- COXPD43