combined oxidative phosphorylation deficiency 28
Findings
No curated finding names combined oxidative phosphorylation deficiency 28 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.
Definition from the Mondo Disease Ontology (MONDO:0014775), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 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.
- Abdominal painHPOHP:0002027
- Decreased activity of mitochondrial complex IHPOHP:0011923
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- Decreased fetal movementHPOHP:0001558
- FatigueHPOHP:0012378
- Global developmental delayHPOHP:0001263
- Muscle weaknessHPOHP:0001324
- PolyhydramniosHPOHP:0001561
- Poor appetiteHPOHP:0004396
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.
- SLC25A26HGNC:20661
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: combined oxidative phosphorylation deficiency 28
- Also called
- combined oxidative phosphorylation defect type 28combined oxidative phosphorylation deficiency caused by mutation in SLC25A26combined oxidative phosphorylation deficiency type 28COXPD28neonatal severe cardiopulmonary failure due to mitochondrial methylation defectSLC25A26 combined oxidative phosphorylation deficiency