Global Variome shared LOVD

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Phenotype #0000358762 Individual ID 00473967 Associated disease SMA Phenotype details Hypotonia; Respiratory problem at birth; Weak cry; Poor feeding; Developmental retardation; EMG-NCV: chronic motor neurogenic process mostly suggestive MND such as SMA. Diagnosis/Initial spinal myscular atrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 1y (1 year) 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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