Phenotype #0000092842

Individual ID 00043884
Associated disease DMD
Phenotype details confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091)
Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 20y (20 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Manuel F. Mas Rodriguez