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 InternationalCreative Commons License
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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