Global Variome shared LOVD

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Phenotype #0000319041 Individual ID 00428104 Associated disease SCA Phenotype details milder form clinical picture older brother; attacks 1-4/week lasting 20 min, characterized by dysarthria, unsteady gait, diplopia thought triggered by fatigue or exercise; no association with headaches; upbeat/downbeat nystagmus Diagnosis/Initial spinocerebellar ataxia Inheritance Familial, autosomal dominant Diagnosis/Definite SCA27 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-21 16:45:25 +01:00 (CET) Date last edited N/A

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