Global Variome shared LOVD

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Phenotype #0000358625 Individual ID 00473830 Associated disease neuropathy Diagnosis/Initial hereditary neuropathy Diagnosis/Definite - Phenotype details Ptosis, Rt. eye; Distal muscle weakness, legs>arms; Muscle wasting in distal of legs; Hand tremor; Claw fingers; Thenar & hypothenar muscle atrophy; Feet drop; Vitiligo lesions; Abnormal gait; Difficulty walking, running & climbing steps. Inheritance Unknown Age/Examination 49y (49 years) 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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