Among other features, the NF1 microdeletion phenotype is associated with somatic overgrowth, dysmorphic features (notable in adolescence and adulthood), more severe cognitive challenges, the earlier appearance with greater numbers of neurofibromas, and an increased risk of developing MPNST (Pasmant et al., 2010). The gene discussed is NF1; the disease is malignant peripheral nerve sheath tumor.