Phenotype #0000157237

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00208607
Associated disease	SCA
Phenotype details	severe ataxia, mild dysarthria, mild down-beat nystagmus, diabetes mellitus
Diagnosis/Initial	spinocerebellar ataxia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	SCA-6
Age/Examination	80y (80 years)
Age/Diagnosis	-
Age/Onset	54y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-12-11 22:00:02 +01:00 (CET)
Date last edited	N/A

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