Phenotype #0000041552

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00054891
Associated disease	EPM6
Phenotype details	2y-frequent falls, clumsy gait; 3y ataxia, 6y myoclonus, no seizures, 3y areflexia, no skeletal abnormalities; 3y EMG normal; CK normal; 7y ambulant; normal cognition
Diagnosis/Initial	2y-frequent falls, clumsy gait
Inheritance	Isolated (sporadic)
Diagnosis/Definite	EPM6
Age/Examination	-
Age/Diagnosis	-
Age/Onset	02y
Phenotype/Onset	gait disorder, clumsiness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-12-01 05:01:25 +01:00 (CET)
Date last edited	2022-01-20 13:33:44 +01:00 (CET)

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