Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000357949 Individual ID 00473154 Associated disease CMT Phenotype details onset 6y with frequent falls; Distal lower & upper muscle weakness due to neuropathy; Difficulty climbing steps; Pes cavus; Mild claw hand; Lordosis; Decreased DTR; Positive Hx. of seizure. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 23y (23 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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