Global Variome shared LOVD

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Phenotype #0000297461 Individual ID 00404902 Associated disease CMT Phenotype details see paper; ..., distal weakness, distal muscle atrophy, involvement of proximal muscles, pes cavus, hammer toes, abnormal walking only with simple canes, distal sensory loss, spine deformity, deep tendon areflexia Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMTRIC Age/Examination 51y (51 years) Age/Diagnosis - Age/Onset 07y 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 16:43:02 +01:00 (CET) Date last edited N/A

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