The mild phenotype described herein with mainly pigmentary manifestations only is not limited to NF1 because several other conditions with overlapping features, especially Legius syndrome and Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome, MIM 151100), may be phenotypically/clinically indistinguishable from the p.Met992del or p.Arg1809 phenotypes. The gene discussed is NF1; the disease is Noonan syndrome.