Overall summary of clinical features of all patients with mutations in the TSC1 gene. A distinction has been made between patients with a stop mutation and an in frame deletion
| Stop mutation | In frame deletion | Total | |
|---|---|---|---|
| Facial angiofibroma | 17/29 | 3/3 | 20/32 (63%) |
| Ungual fibroma | 10/26 | 2/3 | 12/29 (41%) |
| Hypomelanotic macule | 23/26 | 4/4 | 27/29 (93%) |
| Subependymal nodule | 24/28 | 3/4 | 27/32 (84%) |
| Cortical tuber | 10/28 | 2/4 | 12/32 (38%) |
| Epilepsy | 23/30 | 2/4 | 25/34 (74%) |
| Mental retardation | 13/27 | 1/3 | 14/30 (47%) |
| Renal cyst | 4/26 | 0/4 | 4/30 (13%) |
| Renal angiomyolipoma | 1/26 | 0/4 | 1/30 (3%) |
| Cardiac rhabdomyoma | 5/24 | 1/4 | 6/28 (21%) |