Phenotype #0000180477

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00240413
Associated disease	DYT
Diagnosis/Initial	dystonia
Diagnosis/Definite	DYTOABG
Phenotype details	see paper; …, 6y6m-onset dystonia; 6y6m-onset optic atrophy, no intellectual disability (mild concentration difficulties); MRI bilateral hyperintense T2 signal dorsal putamen
Inheritance	Familial, autosomal recessive
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	06y06m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-06-19 19:58:50 +02:00 (CEST)
Date last edited	2019-06-19 20:45:40 +02:00 (CEST)

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