Phenotype #0000092818

Individual ID 00043848
Associated disease DMD
Phenotype details confirmatory test DNA; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 1489; 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 18y (18 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Manuel F. Mas Rodriguez