Global Variome shared LOVD

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

Phenotype #0000358185 Individual ID 00473390 Associated disease CMT Phenotype details onset since childhood; Abnormal gait; Lower & upper muscle weakness and atrophy due to neuropathy; Muscle spasm; Imbalance; Inability to walk; Wheelchair bound; EMG-NCV: Moderate distal symmetric sensorimotor peripheral polyneuropathy (mainly axonal type) involving upper and lower limbs; Brain MRI: periventricular small vessel ischemic changes, brain atrophy, ventriculomegaly, and mild cerebellar atrophy Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 56y (56 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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