Global Variome shared LOVD

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Phenotype #0000296711 Individual ID 00404122 Associated disease SCA Phenotype details 20-y male with progressive ataxia, abnormal ocular eye movement, cognitive impairment distal lower limb weakness and peripheral neuropathy. Diagnosis/Initial SCA Inheritance Familial, autosomal recessive Diagnosis/Definite AOA2 Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 13y Phenotype/Onset - Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sherifa Ahmed Hamed Date created 2022-02-27 21:25:02 +01:00 (CET) Date last edited 2022-03-03 10:37:19 +01:00 (CET)

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