Phenotype #0000125509

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	00152547
Associated disease	MEB
Phenotype details	see paper; ...
Diagnosis/Initial	muscle-eye-brain disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MDDGA-3
Age/Examination	02y03m (2 years, 3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-02-02 23:10:16 +01:00 (CET)
Date last edited	N/A

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