Phenotype #0000351759

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466395
Associated disease	TAM1
Phenotype details	Limb-girdle muscular dystrophy * Motor delay * Hyperlordosis * Muscle fiber necrosis * Increased endomysial connective tissue * Abnormal circulating creatine kinase concentration * Specific learning disability
Diagnosis/Initial	LGMD
Inheritance	Isolated (sporadic)
Diagnosis/Definite	Myopathy, tubular aggregate, 1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Camille Verebi
Database submission license
Created by	Camille Verebi
Date created	2025-08-27 10:56:54 +02:00 (CEST)
Date last edited	2025-09-01 10:41:58 +02:00 (CEST)

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