Phenotype #0000280107

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00386304
Associated disease	DYT
Diagnosis/Initial	generalized dystonia
Diagnosis/Definite	DYT6
Phenotype details	dystonia sites involve upper face, lower face, neck, tongue, jaw, right arm, left arm, left leg, trunk
Inheritance	Familial, autosomal dominant
Age/Examination	46y (46 years)
Age/Diagnosis	-
Age/Onset	13y
Phenotype/Onset	primary torsion dystonia leg
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-10-21 09:54:42 +02:00 (CEST)
Date last edited	N/A

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