coenzyme q10 deficiency, primary, 9
MONDO:0033615Mondo
Findings
No curated finding names coenzyme q10 deficiency, primary, 9 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
18 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
- 3 of 3 reported patients
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 3 of 3 reported patients
- EncephalopathyHPOHP:0001298
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Horizontal nystagmusHPOHP:0000666
- 3 of 3 reported patients
- Impaired tandem gaitHPOHP:0031629
- 3 of 3 reported patients
- Type 2 muscle fiber predominanceHPOHP:0010602
- 1 of 1 reported patient
- Brisk reflexesHPOHP:0001348
- 2 of 3 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 3 reported patients
- DysmetriaHPOHP:0001310
- 2 of 3 reported patients
- MyoclonusHPOHP:0001336
- 2 of 3 reported patients
- Age-inappropriate oppositional behaviorHPOHP:0010865
- 1 of 3 reported patients
Show the remaining 6
- Hypometric saccadesHPOHP:0000571
- 1 of 3 reported patients
- ImpulsivityHPOHP:0100710
- 1 of 3 reported patients
- Lower limb spasticityHPOHP:0002061
- 1 of 3 reported patients
- Short attention spanHPOHP:0000736
- 1 of 3 reported patients
- Slow saccadic eye movementsHPOHP:0000514
- 1 of 3 reported patients
- TremorHPOHP:0001337
- 1 of 3 reported patients
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.
- COQ5HGNC:28722
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: coenzyme q10 deficiency, primary, 9
- Also called
- COQ10D9