Global Variome shared LOVD

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Phenotype #0000297471 Individual ID 00404913 Associated disease CMT Phenotype details sensory loss distal UL/LL; areflexia; generalised muscle weakness; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; moderately reduced motor nerve conduction velocity, combined motor action potential; EMG chronic neurogenic changes; Diagnosis/Initial predominant motor neuropathy Inheritance Familial, autosomal recessive Diagnosis/Definite CMTRIC Age/Examination - Age/Diagnosis - Age/Onset 13y-25y Phenotype/Onset proximal lower limb weakness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-03-10 18:10:34 +01:00 (CET) Date last edited N/A

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