Global Variome shared LOVD

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Phenotype #0000232926 Individual ID 00307121 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Abnormality of the musculature (HP:0003011); Rhabdomyolysis (HP:0003201); EMG abnormality (HP:0003457); Myotonia (HP:0002486); Elevated serum creatine phosphokinase (HP:0003236); Muscle stiffness (HP:0003552) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2020-08-03 09:32:01 +02:00 (CEST) Date last edited 2020-08-04 21:37:54 +02:00 (CEST)

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