Global Variome shared LOVD

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Phenotype #0000296713 Individual ID 00404124 Associated disease AOA Diagnosis/Initial - Diagnosis/Definite AOA1 Phenotype details 18-y male with progressive ataxia and abnormal ocular eye movement. Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset 07y 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 21:53:33 +01:00 (CET) Date last edited 2022-03-01 16:09:02 +01:00 (CET)

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