primary coenzyme Q10 deficiency 5

Term ID

DOID:0070242

Synonyms

• coenzyme Q10 deficiency, primary, 5
• COQ10D5
• encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Definition

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. https://www.ncbi.nlm.nih.gov/pubmed/19375058

References

• OMIM:614654
• ORDO:319678

Ontology

Human Disease   ( DOID:0070242 )