Global Variome shared LOVD

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

Phenotype #0000319024 Individual ID 00428079 Associated disease SCA Phenotype details 34y-onset ataxia; wheelchair bound; treated for depression; no gaze-evoked nystagmus; unintelligible speech; tremor; moderate limb ataxia; MRI brain cerebellar atrophy Diagnosis/Initial cerebellar ataxia Inheritance Familial, autosomal dominant Diagnosis/Definite SCA27 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 2022-12-21 14:12:23 +01:00 (CET) Date last edited N/A

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