Phenotype #0000284146

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00390609
Associated disease	MDDG
Phenotype details	limb-girdle muscular dystrophy; 1y1m-walk; no contractures; no intellectual disability; no seizures; CK level 1511-3643 IU/L; UCG tricuspid regurgitation (mild);
Diagnosis/Initial	congenital muscular dystrophy, mental retardation
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	3y3m (3 years, 3 months)
Age/Diagnosis	-
Age/Onset	2y9m
Phenotype/Onset	hyperCKemia
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-10 16:44:31 +01:00 (CET)
Date last edited	N/A

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