Global Variome shared LOVD

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Phenotype #0000243112 Individual ID 00324603 Associated disease CMT Phenotype details diffuse paresis of feet (MRC2-3), steppage gait, hypotonic feet, absent Achilles tendon jerks Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal dominant Diagnosis/Definite CMT2N Age/Examination 70y (70 years) Age/Diagnosis - Age/Onset 10y 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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