Phenotype #0000041547

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054886
Associated disease	EPM6
Phenotype details	5.5y myoclonus; 24y tonic-clonic seizures; absences; tonic seizures; 3y areflexia; 13y wheelchair; normal cognition; scoliosis; EEG generalized discharges photosensitive; CK 174–213 (normal <170)
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	2y6m
Phenotype/Onset	ataxia
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-12-01 04:31:33 +01:00 (CET)
Date last edited	N/A

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