coenzyme Q10 deficiency, primary, 3
Findings
No curated finding names coenzyme Q10 deficiency, primary, 3 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 PDSS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013838), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal 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.
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Decreased level of coenzyme Q10 in skeletal muscleHPOHP:0034369
- 1 of 1 reported patient
- EdemaHPOHP:0000969
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Focal motor status epilepticusHPOHP:0032663
- 1 of 1 reported patient
- Focal T2 hyperintense basal ganglia lesion
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.
- PDSS2HGNC:23041
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: coenzyme Q10 deficiency, primary, 3
- Also called
- coenzyme Q10 deficiency caused by mutation in PDSS2coenzyme Q10 deficiency, primary, type 3PDSS2 coenzyme Q10 deficiency