Phenotype #0000124778

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00152435
Associated disease	MEB
Phenotype details	atypical phenotype; CPK 10x
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Isolated (sporadic)
Diagnosis/Definite	MDDGA-2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	0y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2006-08-14 23:41:49 +02:00 (CEST)
Date last edited	2012-03-09 18:27:00 +01:00 (CET)

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