Phenotype #0000114006

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00141258
Associated disease	EDMD
Phenotype details	elbow contractures; elevated serum CPK (HP:0003236) 12000; motor ability walk 12m
Diagnosis/Initial	dystrophy, muscular, Emery Dreifuss type (EMD)
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	11y
Phenotype/Onset	-
Protein	-
Owner name	Bilyana Georgieva
Database submission license	No license selected
Created by	Bilyana Georgieva
Date created	2008-06-09 16:19:55 +02:00 (CEST)
Date last edited	2012-03-09 19:08:25 +01:00 (CET)

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