Global Variome shared LOVD

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Phenotype #0000296710 Individual ID 00404121 Associated disease SACS Phenotype details 18-y male with progressive ataxia, peripheral neuropathy, Babinski sign, pes cavus and mental retardation. He had delayed physical and mental development. Diagnosis/Initial SCA Inheritance Familial, autosomal recessive Diagnosis/Definite SACs Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 08y 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 20:58:53 +01:00 (CET) Date last edited 2022-03-03 10:20:08 +01:00 (CET)

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