Global Variome shared LOVD

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Phenotype #0000210551 Individual ID 00275997 Associated disease ataxia Diagnosis/Initial - Diagnosis/Definite Spinocerebellar ataxia Phenotype details global developmental delay, ataxia, intellectual disability, speech delay, focal drug-resistant epileptic seizures, progressive gait deterioration Inheritance Familial, autosomal recessive Age/Examination - Age/Onset - Phenotype/Onset - Protein Lack of protein expression Owner name Edoardo Errichiello Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Edoardo Errichiello Date created 2020-01-22 21:52:53 +01:00 (CET) Date last edited 2020-01-23 14:37:00 +01:00 (CET)

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