Global Variome shared LOVD

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Phenotype #0000358734 Individual ID 00473939 Associated disease motor neuron disease Diagnosis/Initial motor neuron disease Diagnosis/Definite - Phenotype details onset since 7-mo ago with right lower muscle weakness extended to left side; Positive Gowers sign; Muscle atrophy; Abnormality of gait; EMG-NCV: early stage of anterior horn cell disease. Inheritance Familial, autosomal dominant Age/Examination 47y (47 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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