Global Variome shared LOVD

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

Phenotype #0000228500 Individual ID 00301232 Associated disease neuropathy Diagnosis/Initial CMT2 (motor predominant) Diagnosis/Definite - Phenotype details mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced Inheritance Familial, autosomal recessive Age/Examination 26y (26 years) Age/Onset 18y Phenotype/Onset Difficulties running and jumping 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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