Global Variome shared LOVD

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Phenotype #0000358738 Individual ID 00473943 Associated disease CMT Phenotype details onset 4y, Congenital Glaucoma, bilateral; Neuropathy; Finger deformities, bilateral; Mild facial weakness; Distal muscle weakness & wasting, legs>arms; Claw fingers; Thenar & hypothenar atrophy; Bilateral pes cavus; Claw toes; Bilateral foot drop; Foot deformity, Lt.; Difficulty walking, running & climbing steps; Abnormal gait; EMG-NCV: Chronic severe demyelinating sensorimotor polyneuropathy Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Unknown Diagnosis/Definite - Age/Examination 18y (18 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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