Phenotype #0000158646

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00210072
Associated disease	ALS
Phenotype details	weakness hands, legs; swallowing dysfunction; raised CPK level (HP:0003236) 2×
Diagnosis/Initial	distal myopathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	ALS-21
Age/Examination	-
Age/Diagnosis	-
Age/Onset	45y
Phenotype/Onset	weakness legs
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2010-03-21 20:03:23 +01:00 (CET)
Date last edited	2012-03-04 15:57:43 +01:00 (CET)

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