Phenotype #0000092817

Individual ID 00043847
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) >2000; 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 21y (21 years)
Age/Onset -
Phenotype/Onset -
Age/Diagnosis 6y
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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