Global Variome shared LOVD

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Phenotype #0000357824 Individual ID 00473029 Associated disease CMT Phenotype details onset since 7-8y; Mild distal muscle atrophy due to neuropathy; Paresthesia in hands & left foot; Mild lower muscle weakness; Sensorimotor polyneuropathy, demyelinating type, R/O MADSAM in EMG. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Unknown Diagnosis/Definite - Age/Examination 36y (36 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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