combined oxidative phosphorylation defect type 20
Findings
No curated finding names combined oxidative phosphorylation defect type 20 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 VARS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014397), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
19 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.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- EEG with burst suppressionHPOHP:0010851
- 1 of 1 reported patient
- Elevated brain lactate level by MRSHPOHP:0012707
- 1 of 1 reported patient
- Focal-onset seizureHPO
Show the remaining 7
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Left ventricular noncompactionHPOHP:0030682
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Progressive external ophthalmoplegiaHPOHP:0000590
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Respiratory insufficiencyHPOHP:0002093
- 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.
- VARS2HGNC:21642
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: combined oxidative phosphorylation defect type 20
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in VARS2combined oxidative phosphorylation deficiency type 20COXPD20VARS2 combined oxidative phosphorylation deficiency