Phenotype #0000230192

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00303108
Associated disease	EE
Phenotype details	seizures absence (10m), myoclonic jerks; EEG generalised spike wave; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression
Diagnosis/Initial	epileptic encephalopathy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MRD5
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
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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