Global Variome shared LOVD

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Phenotype #0000358047 Individual ID 00473252 Associated disease neuropathy Diagnosis/Initial hereditary neuropathy Diagnosis/Definite - Phenotype details Autosomal dominant pattern, onset 42y , lower and upper muscle pain and weakness, calf atrophy, thenar atrophy, running difficulty, neurogenic pattern and possible HMN reported in EMG/NCV. Inheritance Familial, autosomal dominant Age/Examination 45y (45 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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