Phenotype #0000357731

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00472936
Associated disease	myotonia
Phenotype details	Sporadic case, started at age 7y with progressive muscle weakness and speech problem, hand myotonia, calf hypertrophy, eye muscle myotonia and myotonia congenita reported in EMG
Diagnosis/Initial	congenital myotonia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	39y (39 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

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