| Individual ID |
00180184 |
| Associated disease |
? |
| Diagnosis/Initial |
epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations |
| Diagnosis/Definite |
RETT |
| Phenotype details |
Epilepsy (Lennox-Gastaut syndrome) (HP:0001250), global developmental delay (HP:0001263), depressed nasal bridge (HP:0005280). |
| Inheritance |
Familial, X-linked recessive |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2018-08-24 19:40:22 +02:00 (CEST) |
| Date last edited |
N/A |