Phenotype #0000339556

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00450493
Associated disease	SCA
Phenotype details	see paper; ..., ataxia, no skeletal muscle atrophy, no skeletal muscle fsciculation, tongue atrophy/ fasciculation
Diagnosis/Initial	spinocerebellar ataxia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	SCA36
Age/Examination	60y (60 years)
Age/Diagnosis	-
Age/Onset	55y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-05-28 19:50:13 +02:00 (CEST)
Date last edited	N/A

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