Global Variome shared LOVD

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Phenotype #0000291347 Individual ID 00398237 Associated disease - Phenotype details 8-year history of recurrent abrupt-onset transient vertical diplopia lasting between a few minutes to 5 hours; no nystagmus, dysarthria, myokymia, tonic upgaze, hearing loss, or behavioral abnormality; magnetic resonance imaging of the brain revealed mild generalized cerebral and cerebellar atrophy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Episodic Ataxia Age/Examination 54y (54 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-02 10:34:47 +01:00 (CET) Date last edited N/A

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