Phenotype #0000092744

Individual ID 00043885
Associated disease BMD
Phenotype details confirmatory test DNA; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 2325; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091)
Diagnosis/Initial dystrophy, muscular, Becker type (BMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite dystrophy, muscular, Becker type (BMD)
Age/Examination 19y (19 years)
Age/Onset -
Phenotype/Onset -
Age/Diagnosis 9y
Protein -
Owner name Manuel F. Mas Rodriguez
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-05-12 16:00:54 +02:00 (CEST)
Date last edited N/A

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