Phenotype #0000116517
| Individual ID |
00038388 |
| Associated disease |
TSC |
| Diagnosis/Initial |
definite tuberous sclerosis |
| TSC/Features |
- |
| Diagnosis/Definite |
TSC |
| Inheritance |
Isolated (sporadic) |
| Phenotype details |
cortical tubers, angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);Shagreen patch (HP:0009721);subependymal giant cell astrocytoma (HP:0009718) |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Seizures |
- |
| Intellectual_dis |
- |
| Protein |
- |
| Cognitive/Impairment |
- |
| Development |
- |
| Owner name |
Sonal Desai |
| Database submission license |
No license selected |
| Created by |
Sonal Desai |
| Date created |
2015-05-07 19:41:49 +02:00 (CEST) |
| Date last edited |
2019-10-12 13:08:55 +02:00 (CEST) |
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