Phenotype #0000351875

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466512
Associated disease	MYOP
Phenotype details	see paper; ..., proximal myopathy, calf muscle hypertrophy, skeletal deformities, choreiform movements upper extremities; extrapyramidal signs
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MPXPS
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-09-09 11:39:11 +02:00 (CEST)
Date last edited	N/A

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