Phenotype #0000351726

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466362
Associated disease	DFNB12
Phenotype details	Myopathy Axial muscle weakness Muscle weakness Proximal muscle weakness Joint hypermobility Congenital sensorineural hearing impairment
Diagnosis/Initial	Congenital myopathy
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Camille Verebi
Database submission license
Created by	Camille Verebi
Date created	2025-08-22 18:06:09 +02:00 (CEST)
Date last edited	2025-08-25 15:54:14 +02:00 (CEST)

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