NF1 and neurofibroma: According to previous observations, macrocephaly, tall stature, skeletal abnormalities, increased number and frequency of neurofibromas, developmental delay and/or intellectual disability and dysmorphic features, including large hands and feet, coarse facial features, and facial dysmorphism, occur more frequently in patients with type-1 deletions as compared to patients with pathogenic variants within the NF1 gene (Table 3).