Global Variome shared LOVD

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

Phenotype #0000357970 Individual ID 00473175 Associated disease CMT Phenotype details onset 1.5 year, Hand tremor; Steppage gait; Pes cavus; Difficulty walking; Lower and upper muscle weakness & atrophy due to neuropathy; Thenar & hypothenar atrophy; Foot drop; Impaired Tip-toe & heel walking; EMG-NCV: compatible with chronic axonal sensorimotor polyneuropathy, R/O CMT-2. 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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