Global Variome shared LOVD

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Phenotype #0000297462 Individual ID 00404903 Associated disease CMT Phenotype details see paper; ..., distal weakness, no distal muscle atrophy, no involvement of proximal muscles, pes cavus, normal walking, running and jumping impossible, distal sensory loss, spine deformity, lower extremities deep tendon areflexia Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMTRIC Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset 20y 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 2022-03-10 16:49:38 +01:00 (CET) Date last edited N/A

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