Global Variome shared LOVD

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Phenotype #0000358123 Individual ID 00473328 Associated disease ALS Phenotype details Sporadic case, lower muscle weakness and cramps started 18 months ago, gait abnormality, dysphasia,nasal speech, fasciculation, foot drop ,active denervation and early phase of motor neuron disease reported in EMG/NCV,normal brain MRI. Diagnosis/Initial amyotrophic lateral sclerosis Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 41y (41 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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