Global Variome shared LOVD
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Phenotype #0000230182
Individual ID
00303098
Associated disease
EE
Phenotype details
seizures tonic-clonic (3y) focal dyscognitive seizures, hemiclonic, myoclonic jerks; EEG generalised spike wave, multi-focal discharges, diffuse slowing; development prior to seizures delayed; moderate intellectual disability, regression
Diagnosis/Initial
epileptic encephalopathy
Inheritance
Isolated (sporadic)
Diagnosis/Definite
EEOC
Age/Examination
15y (15 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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