Global Variome shared LOVD

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

Phenotype #0000358021 Individual ID 00473226 Associated disease CMT Phenotype details onset 31y , consanguineous parents, climbing and walking difficulty, foot drop, stepped gait, bilateral sensory neural hearing imapairment, distal and less proximal muscle weakness in lower and less upper exterimities, sensory impairment, dysphagia, unilateral ptosis, pes cavus, chronic sensory motor demyelinating polyneuropathy reported in NCV. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 38y (38 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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