Global Variome shared LOVD

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Phenotype #0000358290 Individual ID 00473495 Associated disease neuropathy Diagnosis/Initial hereditary neuropathy Diagnosis/Definite - Phenotype details age 35y , frequent falling since childhood , gait abnormality , heel-toe walking difficulty ,easy fatigability, parestesia,congenital cataracts, strabismus, elevated CPK, pure demyelinating motor polyneuropathy reported in EDX Inheritance Familial, autosomal recessive Age/Examination 35y (35 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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