coenzyme Q10 deficiency, primary, 1
Findings
No curated finding names coenzyme Q10 deficiency, primary, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011829), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
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.
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Decreased level of coenzyme Q10 in skeletal muscleHPOHP:0034369
- 1 of 1 reported patient
- Diffuse cerebral atrophyHPOHP:0002506
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Episodic vomitingHPOHP:0002572
- 1 of 1 reported patient
- Focal segmental glomerulosclerosisHPOHP:0000097
- 1 of 1 reported patient
- Global developmental delayHPO
Show the remaining 2
- Status epilepticusHPOHP:0002133
- 1 of 1 reported patient
- TremorHPOHP:0001337
- 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.
- COQ2HGNC:25223
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: coenzyme Q10 deficiency, primary, 1
- Also called
- coenzyme Q10 deficiency caused by mutation in COQ2coenzyme Q10 deficiency, primary, type 1COQ2 coenzyme Q10 deficiency