Global Variome shared LOVD

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

Phenotype #0000358717 Individual ID 00473922 Associated disease ALS Phenotype details Facial Paresis; Muscle weakness and numbness in right foot; Gait difficulty; Fatty liver; Proteinuria, renal disorder; Infertility; Anemia; Immunodeficiency, suspicious of; Rheumatoid arthritis; Hypothyroidism; Brain MRI: few tiny and non-specific white matter hyperintensity; EMG-NCV: motor neuron disorder. 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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