NF1 and neurofibromatosis type 1: Neurofibromatosis type 1 (NF1) microdeletion syndrome is caused by a heterozygous deletion of 17q11.2 region, encompassing NF1 gene and accounting for 4.7–11% of patients affected by neurofibromatosis type-I (Kehrer-Sawatzki et al. 2017).