Global Variome shared LOVD

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Phenotype #0000243110 Individual ID 00324601 Associated disease CMT Phenotype details onset childhood; distal paresis (MRC 3-4),hypotonic feet, steppage gait, no sensory complaints, absent Achilles tendon jerks Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT2N Age/Examination 62y (62 years) Age/Diagnosis - 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 2020-12-20 14:20:17 +01:00 (CET) Date last edited N/A

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