Table 1 Diagnostic criteria for NF1

Individual presents with two^a or more of the following:

 1. Six or more café-au-lait macules of ≥ 5 mm in diameter before puberty or ≥ 15 mm in diameter after puberty

 2. Axillary or inguinal freckling

 3. Two or more dermal neurofibromas or one plexiform neurofibroma

 4. An optic pathway glioma

 5. Two or more iris Lisch nodules or choroidal abnormalities

 6. A distinctive osseous lesion such as a sphenoid dysplasia, anterolateral bowing of the tibia, or pseudoarthritis of a long bone

 7. A heterozygous NF1 variant fraction of 50% in apparently normal tissue such white blood cells