Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000357898 Individual ID 00473103 Associated disease CMT Phenotype details onset 20y with frequent fallings; Lower & upper distal muscle weakness; Atrophy due to neuropathy; Foot drop; Muscle Cramps; Thenar and hypothenar atrophy; EMG/NCV: severe neurogenic changes suggestive of chronic motor> sensory axonal polyneuropathy. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Unknown Diagnosis/Definite - Age/Examination 30y (30 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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