Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000319072 Individual ID 00428136 Associated disease SCA Phenotype details cerebellar ataxia, bilateral vestibulopathy and clinical autonomic nervous system; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); no oculomotor abnormalities (-HP:0000496); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; MRI brain no atrophy; clinical autonomic nervous system dysfunction Diagnosis/Initial ataxia Inheritance Unknown Diagnosis/Definite - Age/Examination 75y (75 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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