primary coenzyme Q10 deficiency 8

Term ID

DOID:0070245

Synonyms

• coenzyme Q10 deficiency, primary, 8
• COQ10D8

Definition

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. https://www.ncbi.nlm.nih.gov/pubmed/26084283

References

• OMIM:616733

Ontology

Human Disease   ( DOID:0070245 )