Phenotype #0000328644
| Individual ID |
00438746 |
| Associated disease |
DEE |
| Diagnosis/Initial |
intellectual disability |
| Diagnosis/Definite |
MRD56 |
| Phenotype details |
see paper; ..., moderate intellectual disability; no seizures; EEG normal; MRI brain; normal; bradykinesia, bradypsychism, hypomimia, hypokinesia, clumsiness, attention instability |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
30y (30 years) |
| 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 |
2023-10-23 14:09:11 +02:00 (CEST) |
| Date last edited |
N/A |
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