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This study reports on the clinical experience of the Brazilian Neurofibromatosis Program (NFP) in a cohort of 101 patients with type 1 neurofibromatosis (NF-1), specifically aiming at analysis of the characteristic clinical presentation of NF-1 patients with mental retardation. Patients were classified into three main groups: NF-1-related mental retardation, NF-1-related seizure disorders and NF-1-related tumor formations. NF-1-related mental retardation was present in 25.7% of the patients with whom an early diagnosis was made, compared to 42% in the NF-1-related seizure disorders group and 50% in the NF-1-related tumor formations group. There was no difference in the frequency of NF-1-related mental retardation (30%) between patients with and without family history of NF