Global Variome shared LOVD

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Phenotype #0000358236 Individual ID 00473441 Associated disease motor neuron disease Diagnosis/Initial motor neuron disease Diagnosis/Definite - Phenotype details Started 6y, distal lower and upper muscle weakness (neuropathy), gait abnormality, toe-heel walking inability, fasciculation, muscle cramps and denervation renervation and active motor neuron disease reported in EDX, history of ALS in the brother and grandfather. Inheritance Familial, autosomal dominant Age/Examination 65y (65 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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