Table 2 Observed frequencies of clinical features for all patients in this study.

From: Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex

 

PTC (−) (N = 13)

PTC (+) (N = 17)

P-value

Hypomelanotic macules (%)

1 (7.7)

8 (47.1)

0.041

Angiofibromas (%)

8 (61.5)

12 (70.6)

0.705

Ungual fibromas (%)

3 (23.1)

6 (35.3)

0.691

Shagreen patch (%)

2 (15.4)

3 (18.8)

1

Multiple retinal hamartomas (%)

2 (15.4)

5 (29.4)

0.427

Cortical tuber (%)

9 (69.2)

17 (100)

0.026

SEN (%)

9 (69.2)

17 (100)

0.026

SEGA (%)

1 (7.7)

3 (17.6)

0.613

Cardiac rhabdomyoma (%)

3 (23.1)

3 (17.6)

1

LAM (%)

4 (30.8)

7 (41.2)

0.708

AML (%)

11 (84.6)

15 (88.2)

1

  1. AML angiomyolipoma, LAM Lymphangiomyomatosis, PTC premature termination codon, SEGA subependymal giant cell astrocytoma, SEN subependymal nodule.