Global Variome shared LOVD

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Phenotype #0000157050 Individual ID 00208245 Associated disease ataxia Diagnosis/Initial Progressive Cerebellar Ataxia Diagnosis/Definite - Phenotype details 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 24y, 1st severe attack signs mild coma; PermCer status 25y, no nystagmus, dysarthria, no ataxia Inheritance Unknown Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-06-18 23:00:08 +02:00 (CEST) Date last edited 2012-01-24 14:18:32 +01:00 (CET)

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