Global Variome shared LOVD

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Phenotype #0000269537 Individual ID 00374327 Associated disease ? Diagnosis/Initial neuropathy Diagnosis/Definite - Phenotype details Progressive thinning and weakness of feet and hands, burning paresthesias in bilateral foot and palms, recurrent falls, hypotonia, absence of deep tendon reflexes, bilateral dorsiflexion and small hand muscle wasting Inheritance Familial, X-linked Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-24 20:06:48 +02:00 (CEST) Date last edited N/A

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