Global Variome shared LOVD

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Phenotype #0000357706 Individual ID 00472911 Associated disease ALS Phenotype details onset 33y with dysarthria and feet weakness; No speech; Inability to walk; Spasticity of face muscle; Sialorrhea; Muscle spasticity, weakness & wasting; Muscle cramp; Difficulty tongue movement; Dysphagia; Motor sign, upper/lower; Chewing difficulty; Brain MRI: Enlarged cisterna magna; Rt. kidney hydronephrosis; EMG-NCV: suggestive of active motor neuron disease. Diagnosis/Initial amyotrophic lateral sclerosis Inheritance Unknown Diagnosis/Definite - Age/Examination 35y (35 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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