Global Variome shared LOVD

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Phenotype #0000357995 Individual ID 00473200 Associated disease neuropathy Diagnosis/Initial hereditary neuropathy Diagnosis/Definite - Phenotype details Severe muscle weakness; Hypotonia; Upper limbs weakness, more severe in fingers; No ability to walk; Wheelchair-bound; EMG-NCV: generalized & very severe symmetric sensorimotor axonal & demyelinating polyneuropathy in lower limbs with severe muscle wasting. Inheritance Familial, autosomal recessive Age/Examination 33y (33 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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