Global Variome shared LOVD

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Phenotype #0000357703 Individual ID 00472908 Associated disease BVVLS Phenotype details onset 14y with GI problem including dysphagia, nausea and weight loss; Sensorineural hearing loss; Hand tremor; Atrophy of thenar and hypothenar; Mild generalized muscle weakness; EMG-NCV: motor neuron disease. Diagnosis/Initial Brown-Vialetto-Van Laere syndrome Inheritance Unknown Diagnosis/Definite - Age/Examination 15y (15 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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