Phenotype #0000353116

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467964
Associated disease	NMD
Diagnosis/Initial	neuromuscular disorder
Diagnosis/Definite	myotonia congenita (AR)
Phenotype details	early childhood onset; serum CPK level 148 U/L
Inheritance	Familial, autosomal recessive
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-04 16:13:53 +01:00 (CET)
Date last edited	N/A

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