Phenotypes for disease #05324

11533 entries on 116 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000092701 contractures (HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091); CK level 1383 dystrophy, muscular, Duchenne type (DMD) - Familial 40y - - - Manuel F. Mas Rodriguez 00043931
0000092702 contractures (HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 15420 dystrophy, muscular, Duchenne type (DMD) - Familial 20y - - - Manuel F. Mas Rodriguez 00043954
0000092704 no contractures (-HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) <08y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 17745 dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 25y - - - Manuel F. Mas Rodriguez 00043979
0000092711 contractures (HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 19y - - - Manuel F. Mas Rodriguez 00043955
0000092714 no contractures (-HP:0001371); no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Manuel F. Mas Rodriguez 00043982
0000092716 CPK 12122 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 5y - - - Johan den Dunnen 00104591
0000092717 CPK 3412 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 7y - - - Johan den Dunnen 00104592
0000092718 CPK 14467 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 6y - - - Johan den Dunnen 00104593
0000092719 CPK 1287 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 8y - - - Johan den Dunnen 00104594
0000092720 CPK 11580 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 9y - - - Johan den Dunnen 00104595
0000092721 CPK 24200 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 5y - - - Johan den Dunnen 00104596
0000092722 CPK 22000 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 14y - - - Johan den Dunnen 00104597
0000092723 CPK 21887 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 5y - - - Johan den Dunnen 00104598
0000092724 CPK 2700 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 12y - - - Johan den Dunnen 00104599
0000092725 CPK 2100 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 11y - - - Johan den Dunnen 00104600
0000092726 CPK 4328 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 8y - - - Johan den Dunnen 00104601
0000092727 CPK 3220 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 9y - - - Johan den Dunnen 00104602
0000092728 CPK 9123 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 6y - - - Johan den Dunnen 00104603
0000092729 CPK 6245 U/L dystrophy, muscular, Duchenne type (DMD) - Unknown 7y - - - Johan den Dunnen 00104604
0000092787 - dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Johan den Dunnen 00034399
0000092788 - dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Johan den Dunnen 00034400
0000092789 - dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Johan den Dunnen 00034401
0000092791 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034404
0000092792 intellectual disability (HP:0001249) dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Johan den Dunnen 00034405
0000092793 intellectual disability (HP:0001249) dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Johan den Dunnen 00034406
0000092794 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034407
0000092795 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034408
0000092796 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034409
0000092797 intellectual disability (HP:0001249) dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Johan den Dunnen 00034410
0000092798 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034411
0000092799 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034412
0000092800 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034413
0000092801 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034414
0000092802 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034415
0000092803 - dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Alessandra Ferlini 00034416
0000092804 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034417
0000092805 - dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) - - - - Johan den Dunnen 00034418
0000092806 poor psychomotor development, IQ45; 9m-biopsy numerous necrotic muscle fibers, foci regenerating fibers, discrete type 1 fiber predominance, marked increase collagen endomysial tissue dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Johan den Dunnen 00034422
0000092809 - dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Andreas Laner 00035593
0000092810 - dystrophy, muscular, Duchenne type (DMD) dystrophy, muscular, Duchenne type (DMD) Unknown - - - - Andreas Laner 00035602
0000092811 - dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Andreas Laner 00035614
0000092812 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >11y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 17940; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 11y - - - Manuel F. Mas Rodriguez 00043841
0000092813 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >10y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 6791; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 10y - - - Manuel F. Mas Rodriguez 00043843
0000092814 confirmatory test DNA; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 18000; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 9y - - - Manuel F. Mas Rodriguez 00043844
0000092815 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 33000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 19y - - - Manuel F. Mas Rodriguez 00043845
0000092816 confirmatory test DNA; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 14050; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 17y - - - Manuel F. Mas Rodriguez 00043846
0000092817 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) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 21y - - - Manuel F. Mas Rodriguez 00043847
0000092818 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) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 18y - - - Manuel F. Mas Rodriguez 00043848
0000092819 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 11500; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 18y - - - Manuel F. Mas Rodriguez 00043849
0000092820 confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 21y - - - Manuel F. Mas Rodriguez 00043853
0000092821 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >5y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 28712; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 5y - - - Manuel F. Mas Rodriguez 00043854
0000092822 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >8y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 13469; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 8y - - - Manuel F. Mas Rodriguez 00043855
0000092823 confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 18000; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 19y - - - Manuel F. Mas Rodriguez 00043857
0000092824 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 18000; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 28y - - - Manuel F. Mas Rodriguez 00043859
0000092825 confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 9000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 20y - - - Manuel F. Mas Rodriguez 00043860
0000092826 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) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 18y - - - Manuel F. Mas Rodriguez 00043861
0000092827 confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 18000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 17y - - - Manuel F. Mas Rodriguez 00043862
0000092828 confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 6040; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 19y - - - Manuel F. Mas Rodriguez 00043863
0000092829 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 20379; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 16y - - - Manuel F. Mas Rodriguez 00043864
0000092830 confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 16000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 15y - - - Manuel F. Mas Rodriguez 00043865
0000092831 confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >10y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 19900; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 10y - - - Manuel F. Mas Rodriguez 00043870
0000092832 confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 1600; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 8y - - - Manuel F. Mas Rodriguez 00043871
0000092833 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >20y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 20y - - - Manuel F. Mas Rodriguez 00043872
0000092834 confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 20000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 17y - - - Manuel F. Mas Rodriguez 00043876
0000092835 confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 33000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 13y - - - Manuel F. Mas Rodriguez 00043877
0000092836 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >5y; no contractures (-HP:0001371); CK level 289; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 5y - - - Manuel F. Mas Rodriguez 00043878
0000092837 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 13339; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 16y - - - Manuel F. Mas Rodriguez 00043879
0000092838 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >14y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 14y - - - Manuel F. Mas Rodriguez 00043880
0000092839 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) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 15y - - - Manuel F. Mas Rodriguez 00043881
0000092840 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 16971; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 7y - - - Manuel F. Mas Rodriguez 00043882
0000092841 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 20844; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 9y - - - Manuel F. Mas Rodriguez 00043883
0000092842 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) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 20y - - - Manuel F. Mas Rodriguez 00043884
0000092843 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 67337; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 7y - - - Manuel F. Mas Rodriguez 00043886
0000092844 confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 4836; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 20y - - - Manuel F. Mas Rodriguez 00043887
0000092845 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) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 25y - - - Manuel F. Mas Rodriguez 00043892
0000092846 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 27580; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 7y - - - Manuel F. Mas Rodriguez 00043893
0000092847 confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >10y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 10y - - - Manuel F. Mas Rodriguez 00043894
0000092848 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 6000; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 18y - - - Manuel F. Mas Rodriguez 00043903
0000092849 confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >16y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 13252; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 16y - - - Manuel F. Mas Rodriguez 00043904
0000092850 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 10000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 26y - - - Manuel F. Mas Rodriguez 00043905
0000092851 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >4y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 17271; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 4y - - - Manuel F. Mas Rodriguez 00043906
0000092852 confirmatory test DNA; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 7y - - - Manuel F. Mas Rodriguez 00043907
0000092853 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 9378; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 7y - - - Manuel F. Mas Rodriguez 00043908
0000092854 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 27300; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 23y - - - Manuel F. Mas Rodriguez 00043910
0000092855 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 12454; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 8y - - - Manuel F. Mas Rodriguez 00043911
0000092856 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >9y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 20000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 9y - - - Manuel F. Mas Rodriguez 00043912
0000092857 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >9y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 9y - - - Manuel F. Mas Rodriguez 00043913
0000092858 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >8y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 86700; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 8y - - - Manuel F. Mas Rodriguez 00043914
0000092859 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 25640; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 26y - - - Manuel F. Mas Rodriguez 00043915
0000092860 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 10600; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 19y - - - Manuel F. Mas Rodriguez 00043916
0000092861 confirmatory test DNA; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 7961; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 12y - - - Manuel F. Mas Rodriguez 00043917
0000092862 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >10y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 7961; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 10y - - - Manuel F. Mas Rodriguez 00043918
0000092863 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 24y - - - Manuel F. Mas Rodriguez 00043919
0000092864 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 2170; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 22y - - - Manuel F. Mas Rodriguez 00043920
0000092865 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >8y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 9264; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 8y - - - Manuel F. Mas Rodriguez 00043921
0000092866 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 13200; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 13y - - - Manuel F. Mas Rodriguez 00043922
0000092867 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >10y; no contractures (-HP:0001371); elevated serum CPK (HP:0003236) 19008; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 10y - - - Manuel F. Mas Rodriguez 00043923
0000092868 confirmatory test muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 18000; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 19y - - - Manuel F. Mas Rodriguez 00043925
0000092869 confirmatory test muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) <8y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 28528; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Isolated (sporadic) 17y - - - Manuel F. Mas Rodriguez 00043926
0000092870 scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 33000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Duchenne type (DMD) - Familial 21y - - - Manuel F. Mas Rodriguez 00043927
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