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Table 1 Clinical features of 100 Taiwanese NF1 patients

From: Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis

Clinical features

Patientsa (%)

Café-au-lait spots

93 (93%)

Lisch nodules in the Iris

19 (19%)

Cutaneous neurofibroma

32 (32%)

Plexiform neurofibroma

13 (13%)

Malignant peripheral nerve sheath tumor

2 (2%)

Optic glioma

5 (5%)

Brain tumor

2 (2%)

Scoliosis

10 (10%)

Heart defects

8 (8%)

Learning disability

4 (4%)

Craniofacial disability

9 (9%)

Family history

15 (15%)

  1. a11 patients are under 12 years old; male: female = 53:47