Global Variome shared LOVD

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Phenotype #0000358020 Individual ID 00473225 Associated disease ALS Phenotype details Sporadic case, proximal and distal muscle weakness, fasciculation, spasticity, hyperreflexia, normal speech, normal intelligence, muscle cramps, no bulbar involvement, normal respiration, motor neuron disease reported in EMG, hyperdensity foci reported in brain MRI. Diagnosis/Initial amyotrophic lateral sclerosis Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 52y (52 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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