Phenotype #0000319023

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00428078
Associated disease	SCA
Phenotype details	30y-onset ataxia; wheelchair bound; aggressive outbursts; gaze-evoked nystagmus; unintelligible speech; tremor; moderate limb ataxia
Diagnosis/Initial	cerebellar ataxia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	SCA27
Age/Examination	79y (79 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-21 14:12:23 +01:00 (CET)
Date last edited	N/A

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