Summary of clinical symptoms specific for TSC in the mutation carriers
| TSC trait | III-2 | III-3 | IV-1 | IV-3 |
|---|---|---|---|---|
| *(+), <3; †(+), size 2 mm; ‡n.e., not examined; §, one tumour of 1 cm size. | ||||
| Age at examination | 36 years | 35 years | 11 years | 2 months |
| Facial angiofibroma | − | − | − | − |
| Hypomelanotic macules* | + | (+) | + | + |
| Shagreen patch† | (+) | − | − | − |
| Ungual fibromas | − | − | − | − |
| Retinal hamartoma | − | − | − | n. e.‡ |
| Cerebral tubera | − | − | − | − |
| Subependymal nodules | − | − | − | n. e. |
| Epileptic seizures | − | − | + | − |
| Cardiac rhabdomyoma | n. e. | n. e | n. e. | + |
| Renal cysts or hamartomas§ | − | + | − | n. e. |