Global Variome shared LOVD

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

Phenotype #0000357946 Individual ID 00473151 Associated disease neuropathy Diagnosis/Initial hereditary neuropathy Diagnosis/Definite - Phenotype details onset at age 2y with gait abnormality; Distal lower & upper muscle weakness & atrophy due to neuropathy; Steppage gait; Impaired tip-toe and heel walking; EMG-NCV: suggestive of chronic motor polyneuropathy. Inheritance Unknown Age/Examination 10y (10 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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