Global Variome shared LOVD

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

Phenotype #0000223963 Individual ID 00296557 Associated disease neuropathy Diagnosis/Initial neuropathy Diagnosis/Definite CMT2D;HMN5A Phenotype details no upper limb weakness; lower limb pes cavus, tight Achilles tendon; chronic denervation in legs Inheritance Isolated (sporadic) Age/Examination 16y (16 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 2020-04-08 10:31:42 +02:00 (CEST) Date last edited N/A

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