Global Variome shared LOVD

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Phenotype #0000319063 Individual ID 00428127 Associated disease SCA Phenotype details cerebellar ataxia, bilateral vestibulopathy and spasticity; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain cerebellar atrophy, primarily, superior vermis; spasticity Diagnosis/Initial ataxia Inheritance Unknown Diagnosis/Definite - Age/Examination 71y (71 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-22 12:23:36 +01:00 (CET) Date last edited N/A

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