Phenotype #0000351342
| Individual ID |
00465942 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodegenerative delay |
| Diagnosis/Definite |
DEDISB |
| Phenotype details |
see paper; ..., motor delay; speech delay; mild delay; behavioral problems; attention deficit–hyperactivity disorder; mild intellectual disability; no neurological features; hyperopia, high astigmatism; MRI normal; generalized tonic–clonic seizures |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
3m |
| 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 |
2025-06-20 11:45:26 +02:00 (CEST) |
| Date last edited |
N/A |
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