Phenotype #0000230009
Individual ID |
00302925 |
Associated disease |
NBIA |
Phenotype details |
see paper; ..., epilepsy, growth retardation, autism, 7m/12m-tonic seizures, 16m-continual seizures, 7m/12m-EEG normal, 7m/12m/35m-MRI brain normal |
Diagnosis/Initial |
epilepsy |
Inheritance |
Isolated (sporadic) |
Diagnosis/Definite |
NBIA5 |
Age/Examination |
03y (3 years) |
Age/Onset |
- |
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 |
2020-06-04 18:32:29 +02:00 (CEST) |
Date last edited |
N/A |
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