Term Name: primary coenzyme Q10 deficiency 2
Synonyms: coenzyme Q10 deficiency, primary, 2, COQ10D2, deafness-encephaloneuropathy-obesity-valvulopathy syndrome, hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.
Ontology: Human Disease [DOID:0070239]   ( DOID:0070239 )

Relationships
is a type of: coenzyme Q10 deficiency disease