Phenotype #0000124507

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00152164
Associated disease	MEB
Phenotype details	see paper; ...
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDDGA-3
Age/Examination	02y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	severly reduced enzyme activity
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2006-09-23 12:11:04 +02:00 (CEST)
Date last edited	2018-02-03 15:56:48 +01:00 (CET)

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