Global Variome shared LOVD

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

Phenotype #0000358245 Individual ID 00473450 Associated disease motor neuron disease Diagnosis/Initial motor neuron disease Diagnosis/Definite - Phenotype details Sporadic case, distal upper muscle weakness and paresthesia started 8 months ago, distal upper and lower neuropathy ,fasciculation, muscle cramps, heel walking inability and periventricular and deep white matter lesions reported in brain MRI. Inheritance Unknown Age/Examination 70y (70 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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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