Phenotype #0000044435

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00057784
Associated disease	SMAPME
Phenotype details	normal early development, progressive muscle weakness; 10y-brief episodes unconsciousness, myoclonic jerks; 11y-diffuse muscle atrophy
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	5y
Phenotype/Onset	muscle weakness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-10-28 10:09:38 +01:00 (CET)
Date last edited	N/A

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