primary coenzyme Q10 deficiency 1

Term ID

DOID:0070238

Synonyms

• coenzyme Q deficiency 1
• CoQ deficiency 1
• CoQ10 deficiency, primary, 1
• COQ10D1
• ubiquinone deficiency 1

Definition

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. https://www.ncbi.nlm.nih.gov/pubmed/19375058

References

• OMIM:607426

Ontology

Human Disease   ( DOID:0070238 )