Global Variome shared LOVD

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Phenotype #0000358691 Individual ID 00473896 Associated disease CMT Phenotype details onset 33y with imbalance; Distal muscle weakness, lower>upper limbs; Chest deformity; Kyphoscoliosis; Tremor in hands; Mild thenar & hypothenar atrophy; Feet drop; Bilateral pes cavus; Abnormal gait; Difficulty walking, running & climbing steps; Mild respiratory problem; EMG-NCV: chronic demyelinating sensorimotor polyneuropathy. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 43y (43 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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