Global Variome shared LOVD

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Phenotype #0000223932 Individual ID 00296525 Associated disease neuropathy Diagnosis/Initial neuropathy Diagnosis/Definite CMT2D;HMN5A Phenotype details numbness in both hands; foot drop, wasting of tibialis anterior, weakness foot dorsiflexion; nerve conduction study prolonged distal motor latency, prolonged F waves, small motor responses common peroneal and posterior tibial nerves, mildly reduced conduction velocities common peroneal nerve, low normal or slightly small sensory nerve action potential Inheritance Familial, autosomal dominant Age/Examination 52y (52 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 09:35:52 +02:00 (CEST) Date last edited N/A

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