Global Variome shared LOVD

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Phenotype #0000358246 Individual ID 00473451 Associated disease ALS Phenotype details sporadic case,started 5 months ago,facial weakness, bulbar dysfunction, dysarthria,gait abnormality, foot drop, distal and proximal lower and upper muscle neuropathy, motor neuron disease reported in EDX Diagnosis/Initial amyotrophic lateral sclerosis Inheritance Unknown Diagnosis/Definite - Age/Examination 38y (38 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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