Although some studies suggest that mitochondrial diseases could primarily manifest with skeletal phenotypes24 and congenital glaucoma,25 the role of the NDUFA13 c.187G > A, p.(Glu63Lys) variant in the limb malformation and skeletal dysplasia and congenital glaucoma phenotype observed in Family 12 remains unclear. Here, NDUFA13 is linked to inborn mitochondrial metabolism disorder.