Global Variome shared LOVD

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Phenotype #0000358635 Individual ID 00473840 Associated disease CMT Phenotype details Age at onset 4y, Mild difficulty walking; Neuropathy, hand & foot; Pes cavus; EMG-NCV: chronic demyelinating sensorimotor polyneuropathy. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 13y (13 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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