Global Variome shared LOVD

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Phenotype #0000295490 Individual ID 00402727 Associated disease SMALED1 Phenotype details Myopathy, Exercise intolerance, Myopathic facies, Pectoralis amyotrophy, Shoulder girdle muscle weakness, Upper limb muscle weakness, Muscular dystrophy Diagnosis/Initial 6y Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-02-09 11:14:25 +01:00 (CET) Date last edited 2022-02-16 11:12:13 +01:00 (CET)

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