Phenotypes for disease #05378 (BMD/DMD (dystrophinopathy (BMD or DMD)))

15323 entries on 154 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000092699 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Becker type (BMD) contractures (HP:0001371); scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); restrictive lung disease (HP:0002091); CK level 13000 Isolated (sporadic) 26y 08y - - - Manuel F. Mas Rodriguez 00043842
0000092703 - - no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >6y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 15462 Familial 6y - - - - Manuel F. Mas Rodriguez 00043963
0000092706 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Becker type (BMD) 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 23742 Isolated (sporadic) 19y 05y - - - Manuel F. Mas Rodriguez 00043874
0000092707 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Becker type (BMD) no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >13y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 4218 Isolated (sporadic) 13y 04y - - - Manuel F. Mas Rodriguez 00043851
0000092708 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Duchenne type (DMD) contractures (HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) <08y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 4439 Isolated (sporadic) 10y 04y - - - Manuel F. Mas Rodriguez 00043866
0000092709 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Becker type (BMD) no contractures (-HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) >12y; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no abnormality lung; CK level 618 Familial 12y - - - - Manuel F. Mas Rodriguez 00043873
0000092736 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Becker type (BMD) confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >10y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) Familial 10y 2y - - - Manuel F. Mas Rodriguez 00043850
0000092737 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Becker type (BMD) confirmatory test DNA; scoliosis (HP:0002650); no loss ability to walk (-HP:0006957) >7y; no contractures (-HP:0001371); CK level 2458; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) Familial 7y - - - - Manuel F. Mas Rodriguez 00043852
0000092738 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Becker type (BMD) confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >11y; no contractures (-HP:0001371); no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) Familial 11y 7y - - - Manuel F. Mas Rodriguez 00043856
0000092740 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Becker type (BMD) confirmatory test DNA/muscle biopsy; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); CK level 19076; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) Familial 12y 1y - - - Manuel F. Mas Rodriguez 00043867
0000092741 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Becker type (BMD) confirmatory test DNA/muscle biopsy; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >7y; contractures (HP:0001371); CK level 18065; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) Isolated (sporadic) 7y 6y - - - Manuel F. Mas Rodriguez 00043868
0000092756 dystrophy, muscular, Becker/Duchenne type (BMD/DMD) dystrophy, muscular, Becker type (BMD) confirmatory test DNA; no scoliosis (-HP:0002650); no loss ability to walk (-HP:0006957) >12y; no contractures (-HP:0001371); CK level 18039; no cardiomyopathy (-HP:0001638); no intellectual disability (-HP:0001249); no restrictive lung disease (-HP:0002091) Familial 12y 10y - - - Manuel F. Mas Rodriguez 00043902
0000092780 DMD dystrophy, muscular, Becker type (BMD) CK level 10374-4260 U/L Familial, X-linked 10y - 3y - biopsy BMD Florencia Giliberto 00081839
0000092781 BMD dystrophy, muscular, Becker type (BMD) mildly affected grandfather (70y); CK level 5219-8376 U/L Familial, X-linked 11y - 2y - biopsy BMD Florencia Giliberto 00081840
0000094254 dystrophy, muscular, Becker-like - - Unknown - - - - - Ieke Ginjaar 00122508
0000094258 dystrophy, muscular, Becker-like - - Unknown - - - - - Ieke Ginjaar 00122513
0000094260 dystrophy, muscular, Becker-like - - Unknown - - - - - Ieke Ginjaar 00122528
0000094270 dystrophy, muscular, Becker-like BMD - Unknown - - - - - Johan den Dunnen 00122670
0000094272 dystrophy, muscular, Becker-like BMD - Familial, X-linked - - - - - Franziska Joncourt 00122674
0000094373 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - - Johan den Dunnen 00121949
0000094413 manifesting carrier (DMD) manifesting carrier (DMD) speech impediment; CPK 600 Unknown 9y - - - - Emma Ashton 00121989
0000094573 manifesting carrier (DMD) manifesting carrier (DMD) problems at school; elevated serum CPK (HP:0003236) >5000 Familial, X-linked 9y - - - - Mireille Claustres 00122173
0000094574 dystrophy, muscular BMD/DMD atypical dystrophinopathy Unknown - - - - - Johan den Dunnen 00122174
0000094780 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown 58y 30y - - - Kevin Flanigan 00122442
0000094803 dystrophy, muscular dystrophy, muscular, Duchenne type (DMD) see paper; ..., Isolated (sporadic) - - 03y08m increasing muscle weakness - Johan den Dunnen 00122471
0000095166 manifesting carrier (DMD) manifesting carrier (DMD) - Isolated (sporadic) - - - - - Laurence Michel-Calemard 00122910
0000095229 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - - Kevin Flanigan 00122973
0000095240 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - - Kevin Flanigan 00122984
0000095363 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - - Kevin Flanigan 00123109
0000095402 dystrophy, muscular, Becker-like BMD - Unknown - - - - - Ieke Ginjaar 00123148
0000095403 dystrophy, muscular, Becker-like BMD - Unknown - - - - - Ieke Ginjaar 00123149
0000095409 manifesting carrier (DMD) manifesting carrier (DMD) - Isolated (sporadic) - - - - - Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq 00123155
0000095412 manifesting carrier (DMD) manifesting carrier (DMD) cardiomyopathy Unknown - - - - - Emma Ashton 00123158
0000095417 manifesting carrier (DMD) manifesting carrier (DMD) elevated serum CPK (HP:0003236) Unknown 7y - 3y6m - - Ieke Ginjaar 00123163
0000095433 manifesting carrier (DMD) manifesting carrier (DMD) - Isolated (sporadic) - - - - - Mireille Claustres 00123179
0000095446 manifesting carrier (DMD) manifesting carrier (DMD) - Familial, X-linked - - - - - Eileen Graham 00123192
0000095465 manifesting carrier (DMD) manifesting carrier (DMD) - Familial, X-linked - - - - - Mireille Claustres 00123212
0000095573 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - - Eileen Graham 00123322
0000095794 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - IHC DMD mosaic Ieke Ginjaar 00123560
0000098059 manifesting carrier (DMD) manifesting carrier (DMD) elevated serum CPK (HP:0003236) 5000 Familial, X-linked - - 3y - - Peter Taylor 00125827
0000098069 manifesting carrier (DMD) manifesting carrier (DMD) - Familial, X-linked - - - - - Jana Zidkova 00125837
0000098087 manifesting carrier (DMD) manifesting carrier (DMD) 33y-myositis, beginning with pregnancy; 74y-arrythmia, ventricular fibrillation Familial, X-linked - - - - - Birgit Neitzel 00125855
0000098127 dystrophy, muscular, Becker/Duchenne type DMD - Familial, X-linked - - - - - Johan den Dunnen 00125895
0000098128 dystrophy, muscular, Becker/Duchenne type DMD - Unknown - - - - - Johan den Dunnen 00125896
0000098150 dystrophy, muscular, Becker/Duchenne type - - Unknown - - - - - Johan den Dunnen 00125918
0000098151 dystrophy, muscular, Becker/Duchenne type DMD - Unknown - - - - - Johan den Dunnen 00125919
0000098152 dystrophy, muscular, Becker/Duchenne type DMD - Unknown - - - - - Johan den Dunnen 00125920
0000098966 manifesting carrier (DMD) manifesting carrier (DMD) increased ALT and AST enzymes detected occasionally; elevated serum CPK (HP:0003236) Isolated (sporadic) - - - - DMD negative Daniela Iancu 00126734
0000098967 manifesting carrier (DMD) manifesting carrier (DMD) - Isolated (sporadic) - - - - IHC no DMD, 1-15% positive fibres Jonás Juan-Mateu 00126735
0000098968 manifesting carrier (DMD) manifesting carrier (DMD) - Isolated (sporadic) - - - - IHC DMD unknown (end-stage muscular dystrophy) Jonás Juan-Mateu 00126736
0000098970 manifesting carrier (DMD) manifesting carrier (DMD) - Isolated (sporadic) - - - - IHC isolated fibres no DMD, others with reduced DMD Jonás Juan-Mateu 00126738
0000098971 manifesting carrier (DMD) manifesting carrier (DMD) - Familial, X-linked recessive - - - - IHC no DMD in isolated fibres Jonás Juan-Mateu 00126739
0000098972 manifesting carrier (DMD) manifesting carrier (DMD) manifesting carrier Familial, X-linked recessive - - - - IHC no DMD, mosaic pattern (20% negative fibres) Jonás Juan-Mateu 00126740
0000099053 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126821
0000099054 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126822
0000099086 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - IHC DMD reduced Alessandra Ferlini 00126854
0000099102 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126870
0000099103 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126871
0000099106 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - IHC DMD reduced Alessandra Ferlini 00126874
0000099112 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126880
0000099133 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126901
0000099254 dystrophy, muscular, Becker-like BMD - Unknown - - - - - Peter Ray 00127022
0000099271 manifesting carrier (DMD) manifesting carrier (DMD) CPK 530 Unknown - - - - - Sarah Lang 00127039
0000099277 dystrophy, muscular, Becker-like - elevated serum CPK (HP:0003236) 2605 Unknown - - - - - Sarah Lang 00127045
0000099326 dystrophy, muscular, Becker-like BMD elevated serum CPK (HP:0003236) 7890 Unknown - - - - - Sarah Lang 00127094
0000099349 dystrophy, muscular, Becker-like - - Unknown - - - - - Sarah Lang 00127117
0000099382 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - - Johan den Dunnen 00127151
0000099383 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - - Johan den Dunnen 00127152
0000099391 dystrophy, muscular, Becker-like BMD elevated serum CPK (HP:0003236) 3935 Unknown - - 11y - - Johan den Dunnen 00127160
0000099395 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - - Johan den Dunnen 00127164
0000099571 dystrophy, muscular BMD/DMD - Unknown - - - - - Peter Ray 00127345
0000099611 manifesting carrier (DMD) manifesting carrier (DMD) - Isolated (sporadic) - - - - - Johan den Dunnen 00127387
0000099644 manifesting carrier (DMD) manifesting carrier (DMD) intellectual disability (HP:0001249) Unknown - - - - IHC WB DMD mosaicism Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq 00127421
0000099663 symptomatic carrier female BMD;CMD-3B 17% ejectional fraction; elevated serum CPK (HP:0003236) 10x Familial, X-linked 20y - 16y contracting viral hepatitis, cardiomegaly IHC DMD muscle moderately reduced, heart absent Johan den Dunnen 00127440
0000099668 manifesting carrier (DMD) manifesting carrier (DMD) - Familial, X-linked - - - - - Laurence Michel-Calemard 00127445
0000099675 manifesting carrier (DMD) manifesting carrier (DMD) - Unknown - - - - - Laurence Michel-Calemard 00127452
0000099718 dystrophy, muscular - - Unknown - - - - - Albena Todorova 00127498
0000100172 dystrophy, muscular, Becker-like BMD - Unknown - - - - - Serpil Eraslan 00127954
0000100200 dystrophy, muscular BMD able to walk Unknown 19y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00127982
0000100201 dystrophy, muscular BMD able to walk Unknown 6y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00127983
0000100202 dystrophy, muscular BMD able to walk Unknown 20y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00127984
0000100203 dystrophy, muscular BMD able to walk Unknown 17y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00127985
0000100204 dystrophy, muscular BMD loss ability to walk (HP:0006957) 56y Unknown 64y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00127986
0000100205 dystrophy, muscular BMD able to walk Unknown 16y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00127987
0000100206 dystrophy, muscular BMD loss ability to walk (HP:0006957) 24y Unknown 37y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00127988
0000100207 dystrophy, muscular DMD able to walk Unknown 3y - - - IHC not done Johan den Dunnen 00127989
0000100208 dystrophy, muscular BMD loss ability to walk (HP:0006957) 13y Unknown 22y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00127990
0000100209 dystrophy, muscular BMD able to walk Unknown 10y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00127991
0000100210 dystrophy, muscular BMD able to walk Unknown 35y - - - IHC DMD negative (NCL-DYS1_3) Johan den Dunnen 00127992
0000100211 dystrophy, muscular BMD able to walk Unknown 23y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00127993
0000100212 dystrophy, muscular DMD not able to walk Unknown 8y - - - IHC not done Johan den Dunnen 00127994
0000100213 dystrophy, muscular BMD able to walk Unknown 22y - - - IHC DMD negative (NCL-DYS1_3) Johan den Dunnen 00127995
0000100214 dystrophy, muscular DMD able to walk Unknown 9y - - - IHC not done Johan den Dunnen 00127996
0000100215 dystrophy, muscular DMD loss ability to walk (HP:0006957) 13y Unknown 22y - - - IHC DMD negative (NCL-DYS1_3) Johan den Dunnen 00127997
0000100216 dystrophy, muscular DMD able to walk Unknown 5y - - - IHC DMD negative (NCL-DYS1_3) Johan den Dunnen 00127998
0000100217 dystrophy, muscular DMD loss ability to walk (HP:0006957) 8y Unknown 18y - - - IHC DMD negative (NCL-DYS1_3) Johan den Dunnen 00127999
0000100218 dystrophy, muscular BMD loss ability to walk (HP:0006957) 16y Unknown 32y - - - IHC DMD faint/patchy (NCL-DYS) Johan den Dunnen 00128000
0000100219 dystrophy, muscular DMD able to walk Familial, X-linked recessive 9y - - - IHC DMD negative (NCL-DYS1_3) Johan den Dunnen 00128001
0000100220 dystrophy, muscular DMD not able to walk Familial, X-linked recessive 3y - - - IHC not done Johan den Dunnen 00128002
0000100221 dystrophy, muscular BMD loss ability to walk (HP:0006957) 17y Familial, X-linked recessive 33y - - - IHC not done Johan den Dunnen 00128003
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »