Global Variome shared LOVD

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Phenotype #0000297566 Individual ID 00405008 Associated disease SCA5 Inheritance Familial, autosomal dominant Diagnosis/Initial SCA Age/Examination 33y (33 years) Diagnosis/Definite - Age/Diagnosis - Age/Onset 16y Phenotype/Onset - Phenotype details 27-y male The patient presents with abnormality of movement, ataxia, fasciculations, muscle weakness, muscular hypotonia, peripheral neuropathy, skeletal muscle atrophy and tremor. Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sherifa Ahmed Hamed Date created 2022-03-13 01:07:41 +01:00 (CET) Date last edited 2022-03-15 16:48:38 +01:00 (CET)

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