primary coenzyme Q10 deficiency 7

Term ID

DOID:0070244

Synonyms

• coenzyme Q10 deficiency, primary, 7
• COQ10D7
• COQ4-related neonatal encephalomyopathy
• neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Definition

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. https://www.ncbi.nlm.nih.gov/pubmed/25658047

References

• OMIM:616276
• ORDO:457185

Ontology

Human Disease   ( DOID:0070244 )