Global Variome shared LOVD

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

Phenotype #0000297468 Individual ID 00404910 Associated disease CMT Phenotype details mild sensory loss distal LL; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no clinical cortical involvement; moderately reduced motor nerve conduction velocity, preserved sensory nerve action potential; EMG chronic process with active denervation; MRI brain white matter changes; MRI lower limb moderate fatty infiltration Diagnosis/Initial predominant motor neuropathy Inheritance Familial, autosomal recessive Diagnosis/Definite CMTRIC Age/Examination - Age/Diagnosis - Age/Onset 19y Phenotype/Onset proximal upper 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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