Phenotype #0000310253
| Individual ID |
00418966 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., motor delay; developmental delay; intellectual disability; seizures; ataxia; nystagmus, opsoclonus; MRI brain cystic foci in the periventricular white matter; learning problems, fatigue, headaches, interrupted sleep |
| Inheritance |
Unknown |
| Age/Examination |
16y (16 years) |
| Age/Diagnosis |
- |
| Age/Onset |
<0d |
| 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 |
2022-10-13 21:36:14 +02:00 (CEST) |
| Date last edited |
N/A |
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