Phenotype #0000116520
| Individual ID |
00038392 |
| Associated disease |
TSC |
| Diagnosis/Initial |
definite tuberous sclerosis |
| TSC/Features |
- |
| Diagnosis/Definite |
TSC |
| Inheritance |
Unknown |
| Phenotype details |
dental enamel pits (>3, HP:0009722);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);subependymal giant cell astrocytoma (HP:0009718);subependymal nodules (HP:0009716);ungual fibromas (≥2, HP:0100804), cortical tubers and white matter radial migration lines |
| 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 19:59:17 +02:00 (CEST) |
| Date last edited |
2019-10-12 13:08:55 +02:00 (CEST) |
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