Global Variome shared LOVD

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

Phenotype #0000357746 Individual ID 00472951 Associated disease CMT Phenotype details Abnormal gait; Inability to walk independently; Weakness of facial musculature; Muscle wasting, hands & feet; Abnormal posture, hands & feet; Claw toe deformity; Foot dorsiflexor weakness; EMG-NCV: peripheral sensorimotor neuropathic process, axonal or mixed type; Sensorimotor neuropathy. Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Unknown Diagnosis/Definite - Age/Examination 12y (12 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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