Phenotype #0000092839

Individual ID 00043881
Associated disease DMD
Phenotype details confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 7167; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091)
Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 15y (15 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Manuel F. Mas Rodriguez