primary coenzyme Q10 deficiency 6

Term ID

DOID:0070243

Synonyms

• coenzyme Q10 deficiency, primary, 6
• COQ10D6
• familial steroid-resistant nephrotic syndrome with sensorineural deafness

Definition

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/21540551

References

• OMIM:614650
• ORDO:280406

Ontology

Human Disease   ( DOID:0070243 )