Phenotypes for disease #05320

2118 entries on 22 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     
0000092700 no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >19y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 133 dystrophy, muscular, Becker type (BMD) - Isolated (sporadic) 19y - - - Manuel F. Mas Rodriguez 00043980
0000092705 contractures (HP:0001371); 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 2162 dystrophy, muscular, Becker type (BMD) - Familial 32y - - - Manuel F. Mas Rodriguez 00043947
0000092710 no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >72y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 63 dystrophy, muscular, Becker type (BMD) - Familial 72y - - - Manuel F. Mas Rodriguez 00043964
0000092712 contractures (HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >25y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung dystrophy, muscular, Becker type (BMD) - Isolated (sporadic) 25y - - - Manuel F. Mas Rodriguez 00043956
0000092713 no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >19y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung dystrophy, muscular, Becker type (BMD) - Isolated (sporadic) 19y - - - Manuel F. Mas Rodriguez 00043981
0000092735 2006 cardiomyopathy (HP:0001638); post cardiac transplantation, proximal and lower limb betonte myasthenia (Gower sign positive), sural hypertrophy dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Unknown - - - - Andreas Laner 00035606
0000092739 confirmatory test DNA/muscle biopsy; no 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, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 27y - - - Manuel F. Mas Rodriguez 00043858
0000092742 confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >20y; contractures (HP:0001371); CK level 20000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 20y - - - Manuel F. Mas Rodriguez 00043869
0000092743 confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 5970; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 30y - - - Manuel F. Mas Rodriguez 00043875
0000092744 confirmatory test DNA; no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 2325; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 19y - - - Manuel F. Mas Rodriguez 00043885
0000092745 confirmatory test DNA; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >18y; no contractures (-HP:0001371); CK level 8292; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 18y - - - Manuel F. Mas Rodriguez 00043888
0000092746 confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 15-24y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 24y - - - Manuel F. Mas Rodriguez 00043889
0000092747 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >23y; no contractures (-HP:0001371); CK level 13740; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 23y - - - Manuel F. Mas Rodriguez 00043890
0000092748 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >35y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 35y - - - Manuel F. Mas Rodriguez 00043891
0000092749 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >26y; contractures (HP:0001371); CK level 1593; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 26y - - - Manuel F. Mas Rodriguez 00043895
0000092750 confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >18y; contractures (HP:0001371); CK level 10000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 18y - - - Manuel F. Mas Rodriguez 00043896
0000092751 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >18y; no contractures (-HP:0001371); CK level 12730; cardiomyopathy (HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 18y - - - Manuel F. Mas Rodriguez 00043897
0000092752 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >52y; no contractures (-HP:0001371); CK level 3895; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 52y - - - Manuel F. Mas Rodriguez 00043898
0000092753 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >50y; no contractures (-HP:0001371); CK level 771; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 50y - - - Manuel F. Mas Rodriguez 00043899
0000092754 confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >25y; no contractures (-HP:0001371); CK level 7000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 25y - - - Manuel F. Mas Rodriguez 00043900
0000092755 confirmatory test DNA; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >33y; no contractures (-HP:0001371); CK level 12000; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 33y - - - Manuel F. Mas Rodriguez 00043901
0000092757 confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >64y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 64y - - - Manuel F. Mas Rodriguez 00043909
0000092758 confirmatory test DNA; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >18y; no contractures (-HP:0001371); CK level 9371; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 18y - - - Manuel F. Mas Rodriguez 00043924
0000092759 scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); CK level 880; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 40y - - - Manuel F. Mas Rodriguez 00043929
0000092760 scoliosis (HP:0002650); loss ability to walk (HP:0006957) 15-39y; contractures (HP:0001371); CK level >1000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 39y - - - Manuel F. Mas Rodriguez 00043930
0000092761 scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no contractures (-HP:0001371); CK level 1700; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 38y - - - Manuel F. Mas Rodriguez 00043934
0000092762 scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >44y; no contractures (-HP:0001371); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 44y - - - Manuel F. Mas Rodriguez 00043937
0000092763 no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 15-31y; contractures (HP:0001371); cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 31y - - - Manuel F. Mas Rodriguez 00043943
0000092764 no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >45y; contractures (HP:0001371); cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 45y - - - Manuel F. Mas Rodriguez 00043944
0000092765 scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >51y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 51y - - - Manuel F. Mas Rodriguez 00043945
0000092766 no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 15-57y; contractures (HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 57y - - - Manuel F. Mas Rodriguez 00043946
0000092767 confirmatory test muscle biopsy; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >18y; contractures (HP:0001371); CK level 4687; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 18y - - - Manuel F. Mas Rodriguez 00043952
0000092768 scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >15y; contractures (HP:0001371); CK level 11000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 15y - - - Manuel F. Mas Rodriguez 00043953
0000092769 confirmatory test muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >19y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 19y - - - Manuel F. Mas Rodriguez 00043960
0000092770 confirmatory test muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >14y; no contractures (-HP:0001371); CK level 13000; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 14y - - - Manuel F. Mas Rodriguez 00043961
0000092771 no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >19y; no contractures (-HP:0001371); CK level 232; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 19y - - - Manuel F. Mas Rodriguez 00043962
0000092772 scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >16y; contractures (HP:0001371); CK level 3969; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 16y - - - Manuel F. Mas Rodriguez 00043971
0000092773 scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >12y; no contractures (-HP:0001371); CK level 6982; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 12y - - - Manuel F. Mas Rodriguez 00043975
0000092774 confirmatory test muscle biopsy; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >20y; no contractures (-HP:0001371); CK level 10185; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Isolated (sporadic) 20y - - - Manuel F. Mas Rodriguez 00043976
0000092775 no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >23y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 23y - - - Manuel F. Mas Rodriguez 00043977
0000092776 no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >16y; no contractures (-HP:0001371); CK level 3442; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial 16y - - - Manuel F. Mas Rodriguez 00043978
0000092777 exercise-induced myalgia, recurrent pigmenturia, mild proximal muscle involvement, mild scapular winging, mild calf hypertrophy; CK level 1856-7820 dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial, X-linked recessive - - excercise-induced fatigability, back pain, muscle cramps, recurrent myalgia, pigmenturia IHC DMD-rod absent, N-/C- near normal Johan den Dunnen 00049064
0000092778 large calves, able to walk-16m, run, go up/down steps with no difficulty; mild muscular symptoms; EMG-short-primary myopathy (duration and low-amplitude motor unit potentials); biopsy myopathic changes (slight atrophy type 1/2 fibers, diameter variations, perimysial/endomysial fibrosis; IHC-limited number isolated attenuated fibers; no scoliosis (-HP:0002650); no contractures (-HP:0001371); CK level 20145 IU/L; no cardiomyopathy (-HP:0001638); no restrictive lung disease (-HP:0002091) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial, X-linked recessive - 05y frequent muscle cramps IHC DMD present (Dys-1/2/3) Johan den Dunnen 00052360
0000092779 - dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Unknown - - - - Johan den Dunnen 00074390
0000092782 see paper; ..., 27y-moderate proximal weakness both lower limbs, difficulty climbing stairs/running; mild weakness of iliopsoas/quadriceps muscles, muscle atrophy distal forearm/thigh dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Unknown 29y 23y left thigh muscle weakness - Johan den Dunnen 00095995
0000092783 6y-proximal muscle weakness affecting 4 extremities, calf pseudohypertrophy, hiperCKemia (unavailable values), myopathic pattern at EMG, respiratory insufficiency; 38y muscle biopsy inconclusive; clinical evolution after 40y unknown; loss ability to walk (HP:0006957) 24y; cardiomyopathy, dilated (HP:0001644); abnormality lung (HP:0002088) dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD) Familial, X-linked recessive - 06y proximal muscle weakness affecting the four extremities, calf pseudohypertrophy - Miguel Angel Alcántara-Ortigoza 00101232
0000094118 raised CPK 26.000 UI/L BMD - Isolated (sporadic) 18y 14y - biopsy BMD Florencia Giliberto 00119119
0000094210 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00121938
0000094211 CPK 800; loss ability to walk (HP:0006957) 21y dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Emma Ashton 00121993
0000094212 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122028
0000094213 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122042
0000094214 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122043
0000094215 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Emma Ashton 00122045
0000094216 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Masafumi Matsuo 00122078
0000094217 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122083
0000094218 - dystrophy, muscular, Becker type (BMD) BMD Familial, X-linked - - - - Johan den Dunnen 00122090
0000094220 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122106
0000094221 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122107
0000094222 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122119
0000094223 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122122
0000094224 elevated serum CPK (HP:0003236) 10820 dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Masafumi Matsuo 00122124
0000094225 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Ieke Ginjaar 00122126
0000094226 - dystrophy, muscular, Becker type (BMD) - Unknown - - - - Johan den Dunnen 00122156
0000094227 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122157
0000094228 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Masafumi Matsuo 00122162
0000094229 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122164
0000094230 13y-CPK 7000 (IU/L), no muscle biopsy, no mental retardation (-HP:0001249) dystrophy, muscular, Becker type (BMD) BMD Isolated (sporadic) - - - - Kyriaki Kekou 00122233
0000094231 elevated serum CPK (HP:0003236) 6860 dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Sarah Lang 00122235
0000094232 - dystrophy, muscular, Becker type (BMD) BMD Isolated (sporadic) - - - IHC DMD decreased Jana Sedlackova 00122270
0000094233 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122369
0000094235 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122401
0000094237 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122405
0000094238 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122406
0000094239 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122407
0000094240 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122409
0000094241 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122410
0000094242 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122411
0000094243 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122412
0000094244 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122413
0000094246 - dystrophy, muscular, Becker type (BMD) BMD Unknown 16y - - - Kevin Flanigan 00122445
0000094247 - dystrophy, muscular, Becker type (BMD) BMD Familial, X-linked 10y - - - Kevin Flanigan 00122446
0000094248 - dystrophy, muscular, Becker type (BMD) BMD Unknown 19y - - - Kevin Flanigan 00122447
0000094249 elementary school nocturnal muscle cramping; 28y-unable to walk stairs carrying supplies; progressive weakness, walked with assistive devices; 67y-profound limb-girdle weakness; loss ability to walk (HP:0006957) 7y dystrophy, muscular, Becker type (BMD) BMD Familial, X-linked 67y 20y weakness running IHC DMD reduced, absent ex01 antibody; WB 10%, reduced size Kevin Flanigan 00122453
0000094250 intellectual disability (HP:0001249) dystrophy, muscular, Becker type (BMD) BMD Unknown 34y - - WB DMD full-size, reduced abundance Mireille Claustres 00122459
0000094251 elevated serum CPK (HP:0003236) dystrophy, muscular, Becker type (BMD) BMD Isolated (sporadic) - 18y high CK - Mireille Claustres 00122460
0000094252 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - IHC DMD irregular Ieke Ginjaar 00122475
0000094253 mild dystrophy; elevated serum CPK (HP:0003236) dystrophy, muscular, Becker type (BMD) BMD Unknown - - - IHC DMD reduced Ieke Ginjaar 00122476
0000094255 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Ieke Ginjaar 00122509
0000094256 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Ieke Ginjaar 00122510
0000094257 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Ieke Ginjaar 00122511
0000094259 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Ieke Ginjaar 00122514
0000094261 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Johan den Dunnen 00122546
0000094262 intellectual disability (HP:0001249) dystrophy, muscular, Becker type (BMD) BMD Unknown - - - DMD negative Mireille Claustres 00122552
0000094263 elevated serum CPK (HP:0003236) 1607-21100 dystrophy, muscular, Becker type (BMD) BMD;hCK Unknown 8y - - IHC DMD C-terminal 0, N-terminal weak, patchy, discontinuous staining Masafumi Matsuo 00122596
0000094264 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Bart Janssen 00122648
0000094265 - dystrophy, muscular, Becker type (BMD) BMD Unknown - - - WB 400 kDA DMD 15% Sherifa Hamed 00122655
0000094266 - dystrophy, muscular, Becker type (BMD) BMD Isolated (sporadic) - - - WB 417 kDa DMD 30% Sherifa Hamed 00122656
0000094267 - dystrophy, muscular, Becker type (BMD) BMD Isolated (sporadic) 13y - - WB 427 kDa DMD 20% Sherifa Hamed 00122657
0000094268 - dystrophy, muscular, Becker type (BMD) BMD Isolated (sporadic) 55y - - WB DMD 20% Sherifa Hamed 00122658
0000094269 - dystrophy, muscular, Becker type (BMD) BMD Isolated (sporadic) 42y - - WB DMD 50% Sherifa Hamed 00122659
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