Global Variome shared LOVD

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Phenotype #0000232744 Individual ID 00306921 Associated disease CMT Phenotype details see paper; ..., poor motor performance; distal leg atrophy; distal leg weakness; upper extremity involvement; no decreased touch; no decreased vibration; decreased deep tendon reflex; no cognitive impairment Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite CMT2Z Age/Examination 39y (39 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset poor motor performance Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-24 09:59:44 +02:00 (CEST) Date last edited N/A

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