primary coenzyme Q10 deficiency 2

Term ID

DOID:0070239

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. https://www.ncbi.nlm.nih.gov/pubmed/17332895

References

• OMIM:614651
• ORDO:254898

Ontology

Human Disease   ( DOID:0070239 )