Phenotype #0000117269

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00144529
Associated disease	MD
Phenotype details	intermediate severity; contractures (HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); 15y-onset respiratory involvement (HP:0002086); no cardiac involvement (-HP:0001627); 14y-loss ability to walk (HP:0006957)
Diagnosis/Initial	dystrophy, muscular
Inheritance	Unknown
Diagnosis/Definite	LGMD-2C
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-12-17 21:23:37 +01:00 (CET)
Date last edited	N/A

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