Global Variome shared LOVD

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

Phenotype #0000228510 Individual ID 00301242 Associated disease neuropathy Diagnosis/Initial dHMN Diagnosis/Definite - Phenotype details mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes Inheritance Familial, autosomal recessive Age/Examination 52y (52 years) Age/Onset 20y 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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