| Patients | Age at observation (years) | Sex | Family history | CLS | CNf | SNf | PNf | AF | Sc | OG | MR | PA | TD | Other tumours | Other features | |||||
| Patients carrying single or multi-exon deletions | ||||||||||||||||||||
| 201 | 28 | F | S | + | – | – | + | NE | – | – | – | – | – | Astrocytoma | – | |||||
| 131 | 1 | F | S | + | – | – | – | – | – | – | – | – | – | – | – | |||||
| 113 | 26 | F | S | + | – | + | – | + | – | – | – | – | + | – | Hypothyroidism, UBOs, seizures | |||||
| 175 | 48 | F | FH | + | – | + | – | – | + | – | – | – | – | Neurinoma, meningioma, adrenal adenoma | – | |||||
| 227 | 30 | F | FH | + | + | – | – | + | – | – | – | – | – | – | – | |||||
| 61 | 37 | M | S | + | + | + | + | – | – | – | – | – | – | – | H | |||||
| 117 | 30 | F | S | + | + | – | – | – | – | – | – | – | – | Acoustic neurinoma | PE | |||||
| 72 | 26 | F | FH | + | + | – | + | + | + | – | – | – | – | Schwannoma | BN, thyroid nodules | |||||
| 196 | 25 | F | S | + | – | – | – | + | – | – | – | – | – | – | – | |||||
| 34 | 9 | F | FH | + | – | – | – | – | – | – | – | – | – | – | – | |||||
| 190 | 15 | M | S | + | – | – | – | + | – | – | – | – | – | – | – | |||||
| 16 | 20 | F | S | + | + | – | – | – | – | + | – | – | – | – | – | |||||
| 18 | 5 | F | S | + | – | – | – | – | + | – | – | – | – | – | – | |||||
| 307 | 34 | F | FH | + | – | + | – | + | – | – | – | – | – | – | – | |||||
| Patients carrying whole gene deletions | ||||||||||||||||||||
| 55 | 35 | M | S | + | + | + | + | + | + | – | – | – | – | – | – | |||||
| 248 | 35 | F | S | + | + | + | + | + | + | – | + | – | – | – | Facial dysmorphism | |||||
| 208 | 11 | F | S | + | + | – | – | + | + | – | + | – | – | – | Chest anomalies, PVS | |||||
| 45 | 26 | M | S | + | + | + | – | + | – | – | – | – | – | – | P | |||||
| 71 | 36 | M | S | + | + | – | + | + | + | – | – | – | – | – | – | |||||
| 111 | 47 | F | S | + | + | – | – | + | + | – | – | – | – | – | H, PE | |||||
| 27 | 33 | M | FH | + | – | + | + | + | + | – | – | + | + | – | E | |||||
| 318 | 8 | F | S | + | – | – | – | + | – | – | – | – | – | – | Facial dysmorphism | |||||
| 305 | 14 | F | S | + | + | – | – | + | – | – | + | – | – | – | – | |||||
+, Present; –, absent; AF, axillary freckling; BN, Becker naevus; CLS, café-au-lait spots; CNf, cutaneous neurofibromas; E, epilepsy; F, female; FH, positive family history; H, hypertension; M, male; MR, mental retardation; NE, not evaluated; OG, optic glioma; P, ptosis; PE, pectus excavatum; PNf, plexiform neurofibromas; PA, pseudoarthrosis; PVS, pulmonar valvular stenosis; Sc, scoliosis; S, sporadic; SNf, subcutaneous neurofibromas; TD, tibial dysplasia; UBOs, unidentified bright objects.