Global Variome shared LOVD

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Phenotype #0000357940 Individual ID 00473145 Associated disease CMT Phenotype details upper and lower muscle weakness (neuropathy), gait abnormality, delayed walking, axonal sensory motor polyneuropathy (HSMN) reported in NCV. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Unknown Diagnosis/Definite - Age/Examination 12y (12 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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