Phenotype #0000359720

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	00474929
Associated disease	NMD
Diagnosis/Initial	Emery-Dreifus muscular dystrophy
Diagnosis/Definite	EDMD2
Phenotype details	see paper; ..., still ambulant
Inheritance	Familial, autosomal dominant
Age/Examination	46y (46 years)
Age/Diagnosis	-
Age/Onset	15y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-31 09:07:29 +02:00 (CEST)
Date last edited	N/A

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