Global Variome shared LOVD

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Phenotype #0000357737 Individual ID 00472942 Associated disease ALS Phenotype details Sporadic case, consanguineous parents, elevated CPK, facial weakness, gait abnormality, asymmetric proximal upper and lower muscle weakness, active motor neuron disease reported in EDX. Diagnosis/Initial amyotrophic lateral sclerosis Inheritance Unknown Diagnosis/Definite - Age/Examination 37y (37 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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