The homozygous carrier of the c.187G > A, p.(Glu63Lys) variant in NDUFA13 presented with limb malformation and skeletal dysplasia and congenital glaucoma phenotype only, whereas the association of the same variant with the recurrent NDUFA13 variant c.170G > A in a trans-state compound heterozygosity resulted in a neurological phenotype. This evidence concerns the gene NDUFA13 and congenital glaucoma.