ORPHA:570491

QRSL1-related combined oxidative phosphorylation defect

Also called QRSL1-related COXPD

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Antenatal, Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:570491 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.