NF1 and poikiloderma with neutropenia: NF1 whole gene deletion is associated with facial dysmorphism and intellectual disability; missense variants affecting codon 844–848 were more prevalent in PN, symptomatic spinal neurofibromas, optic pathway gliomas, and skeletal abnormalities; c.2970_2972delAAT is a milder phenotype without neurofibromas; and missense variants affecting Met1149, Arg1276, Lys1423, and Arg1809 are associated with milder phenotype with Noonan-like features [36–41].