An additional individual, a 14-month-old boy presenting poikiloderma and other ectodermal findings, as well as developmental delay, was reported in 2021 harboring the same intronic variant reported previously by Ajeawung et al. (2019)in trans with a 1.7 Mb microdeletion in 2q13 encompassing, among ten genes in this chromosomal region, ANAPC1 (Zirn et al., 2021). Here, ANAPC1 is linked to Global developmental delay.