Here, we present the case of a 13-year-old girl with an early onset of multiple subcutaneous neurofibromas, learning disabilities and facial dysmorphic features suggestive of NF1 microdeletion syndrome, even though some of the features frequently associated with this syndrome were absent, including macrocephaly, tall stature and large hands and feet, as well as coarse facial features. This evidence concerns the gene NF1 and plexiform neurofibroma.