Global Variome shared LOVD

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Phenotype #0000357720 Individual ID 00472925 Associated disease SMA Phenotype details onset 15y , multiple affected individuals ,non-consanguineous parents , lower muscle weakness and cramps, decreased DTR, lower and bulbar muscle involvement , dysarthria , unbalanced gait,chronic motor neurogenic process reported in EMG/NCV,negative for SMN deletion screening , focal periventricular high density reported in brain MRI. Diagnosis/Initial spinal myscular atrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 32y (32 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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