Cognitive impairment and/or learning disabilities are part of the phenotype associated with the NF1 p.Met992del, as these were present in 50/129 individuals (38.8%), including five children with severe global developmental delay and/or gross motor delay (UAB-R1542, UAB-R1873, UAB-R4613, UAB-R6975, and UAB-R4846). The gene discussed is NF1; the disease is learning disability.