Interestingly, the NDUFA13 c.187G > A, p.(Glu63Lys) variant identified in Family 9 in a heterozygous state was also found in a patient with limb malformation and skeletal dysplasia and congenital glaucoma, but in a homozygous state (Individual 14, Family 12). Here, NDUFA13 is linked to skeletal dysplasia.