Global Variome shared LOVD

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

Phenotype #0000358140 Individual ID 00473345 Associated disease ataxia Diagnosis/Initial hereditary ataxia Diagnosis/Definite - Phenotype details Age 37y , hearing loss, ataxia, decreased DTR, impaired finger to nose test, chronic anterior horn cell disease, sensory neuropathy. Inheritance Familial, X-linked Age/Examination 37y (37 years) 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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