Phenotype #0000157239

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00208609
Associated disease	SCA
Phenotype details	mild ataxia, no dysarthria, mild down-beat nystagmus; phenotype not more severe compared to heterozygous cases
Diagnosis/Initial	spinocerebellar ataxia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	SCA-6
Age/Examination	52y (52 years)
Age/Diagnosis	-
Age/Onset	>51y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-12-11 22:31:46 +01:00 (CET)
Date last edited	N/A

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