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Table 2 Cohort classification according to the NIH criteria and NF1 pathogenic variation status

From: Diagnostic difficulties and possibilities of NF1-like syndromes in childhood

Clinically diagnosed and genetically confirmed NF1 Clinically not diagnosed but genetically detected NF1 Clinically diagnosed but genetically not confirmed NF1 Clinically not diagnosed and genetically not detected NF1
16 patients 4 patients 14 patients:
• 3: Legius sy.
• 2: NF2
• 1: MEN2B sy.
• 1: LEOPARD sy.
• 1: 46,XX,inv.(4)(p13q13)dn
• 6: clinically diagnosed NF1
6 patients:
• 1: Noonan sy.
• 5: no definitive genetic diagnosis
  1. There are four main groups according to the fulfillment of NIH criteria and detected NF1 pathogenic variation