Furthermore, UGCG is also associated with Andeson-Fabry disease (AFD), a rare X-linked recessive inherited congenital error of sphingolipid metabolism, often manifested as systemic vasokeratinoma formation, similar to a partial VM phenotype (Tuttolomondo et al., 2021; Matarneh et al., 2022). Here, UGCG is linked to Nager acrofacial dysostosis.