Objective　To explore the clinical manifestations, diagnosis and treatment of neurofibromatosis type 1 (NF1). Method　The clinical data of NF1 diagnosed by high throughput sequencing in a child were retrospectively analyzed and the related literature were reviewed. Results　A female child was found milk coffee spots and clitoris hypertrophy immediately after birth. NF1 gene test showed C, 655-7-655-2del TTTATA, which was a new pathogenic mutation. Conclusion　NF1 combined with genital abnormalities is rare in clinic. Early diagnosis of NF is difficult, and suspected cases should be diagnosed as early as possible by genetic testing.