Global Variome shared LOVD

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

Phenotype #0000228495 Individual ID 00301227 Associated disease neuropathy Diagnosis/Initial CMT2 Diagnosis/Definite - Phenotype details moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent; burning pain in hands and feet Inheritance Familial, autosomal recessive Age/Examination 20y (20 years) Age/Onset 12y Phenotype/Onset walking difficulties Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-10 11:49:06 +02:00 (CEST) Date last edited N/A

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