Global Variome shared LOVD

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Phenotype #0000358206 Individual ID 00473411 Associated disease ? Diagnosis/Initial anterior horn cell disease Diagnosis/Definite - Phenotype details two affected siblings, started 15y with distal muscle weakness, foot drop and impaired toe-heel walking and chronic inactive anterior horn cell disease reported in EDX Inheritance Familial, autosomal recessive Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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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