Global Variome shared LOVD

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

Phenotype #0000357799 Individual ID 00473004 Associated disease ? Diagnosis/Initial muscle weakness, hearing impairment Diagnosis/Definite - Phenotype details Ataxia; Dizziness; Tremor; Bilateral progressive hearing loss, post lingual; Muscle weakness; EMG-NCV suggestive of sensory motor polyneuropathy with moderate axonal damage. Inheritance Unknown Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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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