Global Variome shared LOVD

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

Phenotype #0000223964 Individual ID 00296558 Associated disease neuropathy Diagnosis/Initial neuropathy Diagnosis/Definite CMT2D;HMN5A Phenotype details upper limb weakness in muscles around thumb, lower limbs pes cavus, hammer toes, ankle jerks depressed Inheritance Familial, autosomal dominant Age/Examination 11y (11 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 10:37:54 +02:00 (CEST) Date last edited N/A

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