Phenotype #0000346286
Individual ID |
00457838 |
Associated disease |
ALXDRD |
Phenotype details |
see paper; ..., OFC SD+1.5; 8m-delayed psychomotor development; occasional seizures; MRI abnormalities suggestive of Alexander disease |
Diagnosis/Initial |
infantile disease Alexander disease |
Inheritance |
Unknown |
Diagnosis/Definite |
ALXDRD |
Age/Examination |
2.6y |
Age/Diagnosis |
- |
Age/Onset |
8m |
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 |
2024-11-20 12:59:57 +01:00 (CET) |
Date last edited |
N/A |
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