primary coenzyme Q10 deficiency 8
Findings
No curated finding names primary coenzyme Q10 deficiency 8 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 COQ7 gene.
Definition from the Mondo Disease Ontology (MONDO:0014754), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Abnormal renal corticomedullary differentiationHPOHP:0005932
- Elevated circulating creatinine concentrationHPOHP:0003259
- Feeding difficultiesHPOHP:0011968
- Flexion contractureHPOHP:0001371
- Global developmental delayHPOHP:0001263
- Hearing impairmentHPOHP:0000365
- HypotoniaHPOHP:0001252
- Muscle weaknessHPOHP:0001324
- PainHPOHP:0012531
Show the remaining 3
- Renal dysplasiaHPOHP:0000110
- Respiratory distressHPOHP:0002098
- Small for gestational ageHPOHP:0001518
Genes
2 genes
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.
Where it sits
- A kind of
- Narrower terms (1)
Other names
5 names
Resolves to: primary coenzyme Q10 deficiency 8
- Also called
- coenzyme Q10 deficiency caused by mutation in COQ7coenzyme Q10 deficiency, primary, 8coenzyme Q10 deficiency, primary, type 8COQ10D8COQ7 coenzyme Q10 deficiency