Global Variome shared LOVD

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

Phenotype #0000357820 Individual ID 00473025 Associated disease neuropathy Diagnosis/Initial hereditary neuropathy Diagnosis/Definite - Phenotype details Lower limbs muscle weakness & mild atrophy due to neuropathy since 4y ago; Mild pes cavus; EMG-NCV suggestive of chronic axonal type sensorimotor polyneuropathy. Inheritance Familial, autosomal dominant Age/Examination 41y (41 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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