Global Variome shared LOVD

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Phenotype #0000358091 Individual ID 00473296 Associated disease neuropathy Diagnosis/Initial hereditary neuropathy Diagnosis/Definite - Phenotype details sporadic case, age 4y , age of onse7 months, walking with assistance (brace) at age 3y Inheritance Familial, autosomal recessive Age/Examination 4y (4 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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