Phenotype #0000092845

Individual ID 00043892
Associated disease DMD
Phenotype details confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 34000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091)
Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD)
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 25y (25 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Manuel F. Mas Rodriguez