Global Variome shared LOVD

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Phenotype #0000351472 Individual ID 00466086 Associated disease EDMD2;LGMD1B Phenotype details Waddling gait (HP:0002515), Difficulty running (HP:0009046), Difficulty climbing stairs (HP:0003551), Elevated circulating creatine kinase concentration (HP:0003236) (CPK: 346/322 UI/L), Elbow contracture (HP:0034391), Achilles tendon contracture (HP:0001771), Spinal rigidity (HP:0003306) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite EDMD2 Age/Examination 11y (11 years) Age/Diagnosis 11y11m Age/Onset - Phenotype/Onset Juvenile onset Protein - Owner name María Eugenia Foncuberta Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by María Eugenia Foncuberta Date created 2025-08-04 17:56:07 +02:00 (CEST) Date last edited 2025-08-06 09:54:53 +02:00 (CEST)

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