Phenotype #0000232599
| Individual ID |
00306768 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDAMSS |
| Phenotype details |
epilepsy, regression (5m-West Syndrome); seizures stopped after 6w treatment, now able to walk, drink, eat, speaks 3 words, understands 20-30 words, recently developed tics/immature movements vanishing after 2w, slight squint |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
01y10m (1 year, 10 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-07-20 10:29:50 +02:00 (CEST) |
| Date last edited |
2020-07-20 10:35:56 +02:00 (CEST) |
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