Global Variome shared LOVD

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Phenotype #0000357985 Individual ID 00473190 Associated disease CMT Phenotype details onsanguineous parents, multiple affected individuals in three generation,onset 24y ,lower muscle pain, pes cavus, genu recurvatum ,hereditary axonal symmetric sensory motor polyneuropathy or anterior horn cell disease in favor of distal SMA reported in EMG/NCV. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 30y (30 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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