Global Variome shared LOVD

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Phenotype #0000223955 Individual ID 00296547 Associated disease neuropathy Diagnosis/Initial neuropathy Diagnosis/Definite CMT2D;HMN5A Phenotype details typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties; upper limbs dorsal interosseous muscle atrophy, weak thumb/index finger; lower limbs ankle dorsi and plantar flexion weakness Inheritance Familial, autosomal dominant Age/Examination 34y (34 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 09:57:33 +02:00 (CEST) Date last edited 2020-04-08 10:01:30 +02:00 (CEST)

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