Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000358114 Individual ID 00473319 Associated disease ALS Phenotype details onset 36y, Muscle weakness & atrophy; Muscle cramps; Fasciculations; Bulbar dysfunction; Dysarthria; Mild dysphagia; Wheelchair bound; Brain MRI: bilateral CST hyperintensity. Diagnosis/Initial amyotrophic lateral sclerosis Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 38y (38 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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