Phenotype #0000328287
| Individual ID |
00438383 |
| Associated disease |
epilepsy |
| Phenotype details |
HP:0001250 seizures; HP:0010533 spasmus nutans; HP:0001249 intellectual disability; HP:0011344 severe global developmental delay; HP:0002333 motor deterioration; HP:0002353 eeg abnormality; HP:0001945 fever; HP:0012387 bronchitis; HP:0012735 cough |
| Diagnosis/Initial |
epilepsy |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
1y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-10-20 19:13:42 +02:00 (CEST) |
| Date last edited |
N/A |
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