Table 2 Number of patients with macrocephaly, normal OFC, and microcephaly
 | Macrocephaly | Normal OFC | Microcephaly |
---|---|---|---|
Patients with clinical data (n = 732) | 47 | 580 | 105 |
Patients with de novo mutation(s) (n = 553) | 35 | 442 | 76 |
Patients with de novo mutation in mTOR-related gene (n = 14) | 9 | 2 | 3 |
Patients with de novo mutation in gene not related to mTOR (n = 539) | 26 | 440 | 73 |