Global Variome shared LOVD

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

Phenotype #0000297469 Individual ID 00404911 Associated disease CMT Phenotype details no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; lumbar hyperlordosis; no repiratory dysfunction; no cardiac involvement; no cortical involvement; reduced combined motor action potential, preserved sensory nerve action potential; EMG chronic neurogenic changes; MRI brain normal; MRI lower limb severe atrophy, fatty infiltration Diagnosis/Initial spinal muscular atrophy Inheritance Familial, autosomal recessive Diagnosis/Definite CMTRIC Age/Examination - Age/Diagnosis - Age/Onset 8y 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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