Here, we report on an individual with cutaneous nevi (widespread nevus sebaceous on the face, skin pigmentation restricted to the right side of her neck, and epidermal nevi along the Blaschko lines), ocular malformations, macrocephaly, and mild developmental delay in whom we identified the mosaic variant c.1647=/T > G p.(Asn549=/Lys) in FGFR2. The variant is located in the tyrosine kinase domain of FGFR2 in a region that regulates the activity of the receptor. This evidence concerns the gene FGFR2 and Global developmental delay.