Global Variome shared LOVD

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Phenotype #0000290703 Individual ID 00397579 Associated disease ataxia Diagnosis/Initial cerebellar ataxia Diagnosis/Definite SCAR10 Phenotype details normal pregnancy and delivery; normal developmental milestones; walks with mild support; 34y-insidious illness, progressive limb incoordination, abnormal gait; 35y-dysarthria, staccato speech; no peripheral nerve affection, no sensory system affection, no sphincteric disturbance, no cognitive deterioration, no cranial nerve involvement; limb ataxia, wide base staggering gait, normal sensation, flexor planter response, normal tendon jerks, normal superficial reflexes Inheritance Familial, autosomal recessive Age/Examination 38y (38 years) Age/Onset 34y Phenotype/Onset Ataxia Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sherifa Ahmed Hamed Date created 2021-12-24 20:05:15 +01:00 (CET) Date last edited 2022-02-21 17:41:36 +01:00 (CET)

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