Global Variome shared LOVD

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Phenotype #0000297459 Individual ID 00404900 Associated disease CMT Phenotype details see paper; ..., distal intermediate neuropathy, scapular winging; 16y-progressive lower limb weakness, altered gait, atrophy of limbs (distal more than proximal), pes cavus, hammer toes; 17y-difficulties in running and walking fast, pressure-induced sensory symptoms extremities Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMTRIC Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 16y Phenotype/Onset progressive lower limb weakness 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 16:12:31 +01:00 (CET) Date last edited N/A

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