Table 2 Clinical characteristics by genotype in patients with tuberous sclerosis complex

Age (years), median (range)

30 (6–54)

31 (4–59)

0.37

Sex

0.031

 Male

4

48

 Female

17

59

Familial/de novo

0.015

 Familial

6

10

 De novo

15

97

Major criteria

 Angiofibromas (≥ 3) or forehead

14/21

88/107

0.10

 Hypomelanotic macules (≥ 3)

15/21

85/107

0.42

 Ungual fibromas (≥ 2)

7/21

57/107

0.095

 Chagrin patch

10/21

61/107

0.42

 Multiple retinal hamartomas

3/15

11/81

0.45

 Cortical dysplasia

2/21

12/107

0.99

 SEN

20/21

86/107

0.12

 SEGA

1/21

4/104

0.99

 Cardiac rhabdomyoma

3/19

5/102

0.11

 LAM (women)

6/18

26/105

0.064

 Renal AML (≥ 2)

20/21

103/107

0.99

Minor criteria

 Confetti skin lesions

3/21

19/107

0.99

 Dental enamel pits (≥ 3)

5/21

15/106

0.27

 Intraoral fibromas (≥ 2)

2/21

12/106

0.99

 Retinal achromatic patch

0/14

0/76

–

 Non-renal hamartomas

5/20

22/105

0.69

 Multiple renal cysts

1/20

12/106

0.69