Global Variome shared LOVD

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Phenotype #0000357060 Individual ID 00472251 Associated disease SMALED1 Phenotype details 0002515: Waddling gait, 0001270: Motor delay, 0005639: Hyperlaxity of the hand joints, 0003307: Hyperlordosis, 0003326: Myalgia, 0003750: Increased muscle fatigue, 0003325: Muscle weakness in the girdles Diagnosis/Initial Myopathy with joint contractures Inheritance Unknown Diagnosis/Definite Spinal muscular atrophy, lower extremity-predominant Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-20 12:26:24 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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