Global Variome shared LOVD

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Phenotype #0000358085 Individual ID 00473290 Associated disease ALS Phenotype details onset 13-month ago; Abnormal gait, spastic; Muscle weakness & atrophy; Fasciculation; Spasticity; Hyperreflexia; Positive Gowers sign; Increased DTR; VEP test: electrical evidence of bilateral demyelination of the optic nerve; EMG-NCV: suggestive of UMN lesion. Diagnosis/Initial amyotrophic lateral sclerosis Inheritance Unknown Diagnosis/Definite - Age/Examination 33y (33 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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