ORPHA:572798

WARS2-related combined oxidative phosphorylation defect

Also called Mitochondrial tryptophanyl-tRNA synthetase deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:572798 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.