Term Name: primary coenzyme Q10 deficiency 6
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.
Ontology: Human Disease [DOID:0070243]   ( DOID:0070243 )

Relationships
is a type of: coenzyme Q10 deficiency disease