The Y134X mutation is reported in association to a classical AFD phenotype [54,58,59], and the p.E59V variant was not previously reported, although a missense mutation in the same position of the GLA gene (E59K) [58] was described as causative of the classical AFD phenotype, and in silico prediction models [60] were in favor of the damaging potential of the variant. The gene discussed is GLA; the disease is Nager acrofacial dysostosis.