Global Variome shared LOVD

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Phenotype #0000319057 Individual ID 00428121 Associated disease SCA Phenotype details cerebellar ataxia, bilateral vestibulopathy, hyper-reflexia and parkinsonism; upper limb ataxia (HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; autonomic nervous system dysfunction (HP:0002270) on anti-hypertensive medication; MRI brain no atrophy; lower limb hyper-reflexia, parkinsonism Diagnosis/Initial ataxia Inheritance Unknown Diagnosis/Definite - Age/Examination 74y (74 years) Age/Diagnosis - Age/Onset 70y 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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