Phenotype #0000337081

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00447889
Associated disease	SCA
Phenotype details	see paper; ..., no acute episodes of ataxia; permanent symptoms; upper limb postural tremor (from childhood); nystagmus; no permanent ataxia; learning difficulties; speech delay
Diagnosis/Initial	ataxia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	SCA27A
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-01-31 10:24:49 +01:00 (CET)
Date last edited	N/A

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