Global Variome shared LOVD

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Phenotype #0000358715 Individual ID 00473920 Associated disease SMA Phenotype details Muscle wasting, lower & upper limbs since 1.5y ago; Pes cavus; Mild muscle limbs atrophy; EMG-NCV: chronic neurogenic changes, probably ant. horn cell disease. Diagnosis/Initial spinal myscular atrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 18y (18 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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