Phenotype #0000230190
Individual ID |
00303106 |
Associated disease |
EE |
Phenotype details |
seizures unknown, focal dyscognitive seizures; EEG multi-focal discharges, diffuse slowing; Moderate intellectual disability autism spectrum disorder |
Diagnosis/Initial |
epileptic encephalopathy |
Inheritance |
Isolated (sporadic) |
Diagnosis/Definite |
MRD5 |
Age/Examination |
18y (18 years) |
Age/Diagnosis |
- |
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 |
2020-06-06 19:15:13 +02:00 (CEST) |
Date last edited |
N/A |
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