Phenotypes for disease #05121

465 entries on 5 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000044499 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00057848
0000045048 - - - Unknown - - - - - Claire Chauveau 00058417
0000054170 12 BMD/DMD patients, 15 controls - - Unknown - - - - - Johan den Dunnen 00074351
0000054171 12 BMD/DMD patients, 15 controls - - Unknown - - - - - Johan den Dunnen 00074352
0000054172 12 BMD/DMD patients, 15 controls - - Unknown - - - - - Johan den Dunnen 00074353
0000054173 12 BMD/DMD patients, 15 controls - - Unknown - - - - - Johan den Dunnen 00074354
0000054174 12 BMD/DMD patients - - Unknown - - - - - Johan den Dunnen 00074355
0000054175 12 BMD/DMD patients - - Unknown - - - - - Johan den Dunnen 00074356
0000054176 12 BMD/DMD patients - - Unknown - - - - - Johan den Dunnen 00074357
0000054177 12 BMD/DMD patients - - Unknown - - - - - Johan den Dunnen 00074358
0000054178 12 BMD/DMD patients - - Unknown - - - - - Johan den Dunnen 00074359
0000054179 12 BMD/DMD patients - - Unknown - - - - - Johan den Dunnen 00074360
0000054180 12 BMD/DMD patients - - Unknown - - - - - Johan den Dunnen 00074361
0000054206 symptomatic female; muscular biopsy compatible with dystrophinopathy; no mental retardation; raised CPK 15.000 UI/L BMD - Isolated (sporadic) 23y 20y 3y - biopsy BMD Florencia Giliberto 00074387
0000058545 raised CPK (HP:0003236) 30x; >70y walking (-HP:0006957) - - Unknown - - 64y - - Johan den Dunnen 00078786
0000058546 raised CPK (HP:0003236) 241-2603; >52y walking (-HP:0006957) - - Unknown - - 38y thigh weakness - Johan den Dunnen 00078787
0000058547 raised CPK (HP:0003236) 1500-6100; >56y walking (-HP:0006957) - - Unknown - - 40y asymmetric thigh weakness - Johan den Dunnen 00078788
0000058548 raised CPK (HP:0003236) 2280; >52y walking (-HP:0006957) - - Unknown - - - - - Johan den Dunnen 00078789
0000058549 raised CPK (HP:0003236) 5000; >35y walking (-HP:0006957) - - Unknown - - 23y reduced sport prformance - Johan den Dunnen 00078790
0000058619 adult onset weakness proximal muscle, atrophy shoulder girdle/lower limbs, Trendelenbur/ Gower signs; EMG myopathy; raised CPK (HP:0003236) 3184 U/l; >35y walking (-HP:0006957) - - Isolated (sporadic) - - 24y walking difficulties - Johan den Dunnen 00078860
0000058620 adult onset, progressive, weakness and atrophy hamstrings and lower limbs; raised CPK (HP:0003236) 9809 U/l; >49y walking (-HP:0006957) - - Isolated (sporadic) - - 30y calf muscle atrophy - Johan den Dunnen 00078861
0000058622 adult onset, MRI muscle asymmetric fatty degeneration biceps femoris; raised CPK (HP:0003236) 9000 U/l; >54y walking (-HP:0006957) - - Isolated (sporadic) - - 54y weakness/atrophy quadriceps femoris/medial calf muscles - Johan den Dunnen 00078863
0000072413 - - - Unknown - - - - - Yi-Chung Lee 00094021
0000080867 •Gait impairment since 1.5yrs of age. •Unable to stand up or walk unaided, in the last 2 yrs. •Brain MRI: white matter changes. •Tetraparesis grade 4+/5 in upper limbs, grade 4-/5 in lower limbs. •Mild intellectual disability. •Partial epilepsy with secondary generalization, due to CNS structural defects (MRI below), with frequent seizures, refractory to treatment. - - Isolated (sporadic) 42y - 01y06m Gait impairment muscle, IHC for LAMA2, normal Jorge Oliveira 00102726
0000081283 Motor delay (HP:0001270), Hyperlordosis (HP:0003307), Elevated serum creatine phosphokinase (HP:0003236), Intellectual disability (HP:0001249) - - Isolated (sporadic) - - >02y Motor delay - Jorge Oliveira 00103207
0000081904 - - - Unknown - - - - - Jorge Oliveira 00103972
0000081977 myopathy vague, suspected muscular dystrophy, loss of ambulatory ability since the seventh year of life, free walking at 2.5y, hypotonia - - Unknown - - - - - Andreas Laner 00035613
0000081983 suspected muscular dystrophy - - Unknown - - - - - Andreas Laner 00035607
0000094126 see paper; ..., congenital muscular dystrophy, fatty liver, infantile-onset cataract - - Familial, autosomal recessive - - - - - Johan den Dunnen 00119128
0000094236 - high CK BMD Unknown - - - - - Johan den Dunnen 00122404
0000105283 - dystrophy, muscular; cardiomyopathy dystrophy, muscular, Duchenne type (DMD); cardiomyopathy, dilated (DCM) Unknown - - - - IHC noDMD Alessandra Ferlini 00132501
0000105317 - dystrophy, muscular; cardiomyopathy dystrophy, muscular, Becker type (BMD); cardiomyoapthy, dilated, X-linked (XLDC) Unknown - - - - nr Alessandra Ferlini 00132535
0000106265 26y-inable to walk (HP:0002540); 2540 elevated CPK (HP:0003236) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - 15y - IHC no SGCs Johan den Dunnen 00133518
0000106272 >13y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Unknown - - - - - Johan den Dunnen 00133525
0000106281 severe; 10y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - muscle weakness early childhood WB SGCB 0% Johan den Dunnen 00133534
0000106282 10y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - 3y - IHC no SGCs, WB no SGCA Johan den Dunnen 00133535
0000106283 no CMD; 15y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - <7y - - Johan den Dunnen 00133536
0000106288 severe; 15x elevated CPK (HP:0003236) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - 4y - IHC no SGCA, SGCB, SGCD, SGCG Johan den Dunnen 00133541
0000106290 11y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - - Johan den Dunnen 00133543
0000106292 15y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - - Johan den Dunnen 00133545
0000106293 >11y-inable to walk (HP:0002540); 60x elevated CPK (HP:0003236) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - 3y - IHC SGCA, SGCB reduced, SGCG slightly reduced Ieke Ginjaar 00133546
0000106294 44y-inable to walk (HP:0002540); 24x elevated CPK (HP:0003236) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - 6y - IHC SGCA, SGCB, SGCG reduced Ieke Ginjaar 00133547
0000106295 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - - Ieke Ginjaar 00133548
0000106296 14y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Unknown - - - - - Johan den Dunnen 00133549
0000106297 14y6m-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - 3y - - Johan den Dunnen 00133550
0000106300 - muscular dystrophy, Becker-like - Unknown - - - - - Johan den Dunnen 00133553
0000106312 hyperlaxity and joint contractures, chest pain, palpitations, dyspnea, several deaths of heart failure; 8-12y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - 00y-05y - - Johan den Dunnen 00133565
0000106314 14y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Unknown - - - - - Johan den Dunnen 00133567
0000106320 >11y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Unknown - - - - - Johan den Dunnen 00133573
0000106324 >8y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Unknown - - - - - Johan den Dunnen 00133577
0000106331 1400 elevated CPK (HP:0003236) muscular dystrophy, Duchenne-like - Familial - - 8y - - Johan den Dunnen 00133584
0000106332 12y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Unknown - - 2y - IHC no SGCs, WB no SGCA Johan den Dunnen 00133585
0000106333 high CPK (HP:0003236); >9y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Unknown - - 1y6m - IHC no SGCs, WB no SGCA Johan den Dunnen 00133586
0000106343 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - - Johan den Dunnen 00133596
0000106353 - muscular dystrophy, Duchenne-like - Unknown - - - - IHC no SGCs, DYSF normnal Tom Winder 00133606
0000106415 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - IHC no SGCA Johan den Dunnen 00133666
0000106417 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - IHC SGCA, SGCB, SGCG and SGCD absent, DMD in membrane Johan den Dunnen 00133668
0000106418 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - IHC SGCA, SGCB, SGCG and SGCD absent, DMD in membrane Johan den Dunnen 00133669
0000106419 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - IHC SGCA, SGCB, SGCG and SGCD absent, DMD in membrane Johan den Dunnen 00133670
0000106420 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - - Johan den Dunnen 00133671
0000106421 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - IHC no SGCA Johan den Dunnen 00133672
0000106424 13y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - 4y - WB SGCA 10%, IHC SGCA, SGCB, SGCG, SGCD severly reduced Johan den Dunnen 00133675
0000106437 - muscular dystrophy, Duchenne-like - Unknown - - - - - Johan den Dunnen 00133688
0000106442 - muscular dystrophy, Duchenne-like - Unknown - - - - - Johan den Dunnen 00133693
0000106559 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - - Johan den Dunnen 00133810
0000106576 - muscular dystrophy, Duchenne-like - Familial - - 4y - WB SGCA 10%, IHC SGCA, SGCB mildly reduced, SGCG absent, SGCD normal Johan den Dunnen 00133827
0000106577 - muscular dystrophy, Duchenne-like; dystrophy, muscular, limb-girdle (LGMD) - Unknown - - - - - Johan den Dunnen 00133828
0000106578 >12y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Unknown - - 8y - - Johan den Dunnen 00133829
0000106581 14y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Unknown - - 7y - - Johan den Dunnen 00133832
0000106584 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - - Ieke Ginjaar 00133835
0000106637 9y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like; dilated cardiomyopathy (DCM) - Unknown - - 4y - WB SGCA 5%, IHC SGCA severely reduced, SGCD normal, SGCB ,ildly reduced, SGCG absent Johan den Dunnen 00133888
0000106641 calf hypertrophy; 2y-inable to walk (HP:0002540); 10,000 elevated CPK (HP:0003236) muscular dystrophy, Becker (BMD) - Unknown - - 10y - DMD, SGCs staining reduced Johan den Dunnen 00133892
0000106740 severe; white cryastallin trace of thymidine residuals; 60y-FVC 0.56; no intellectual disability (-HP:0001249); 4y-inable to walk (HP:0002540); 4y-inable to walk; 8y-inable to sit muscular dystrophy, Duchenne-like - Familial, autosomal recessive - 2y9m 5m - WB no SGCG/SGCA/SGCB, SGCD reduced IHC SGCD patchy Elena Popescu 00133991
0000106741 milder form LGMD-2c; white cryastallin trace of thymidine residuals; 5y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Familial, autosomal recessive - - 19m mild clinical DMD WB no SGCG, reduced SGCA, normal SGCB/SGCD Elena Popescu 00133992
0000106742 milder form LGMD-2c; ; white cryastallin trace of thymidine residuals; 12y-inable to walk (HP:0002540) muscular dystrophy, Duchenne-like - Familial, autosomal recessive - - 42m mild clinical DMD WB no SGCG, reduced SGCA, normal SGCB/SGCD Elena Popescu 00133993
0000106743 white crystallin trace of thymidine residuals; 24y-FVC 0.62; 4y-inable to walk (HP:0002540); 4y-inable to walk muscular dystrophy, Duchenne-like - Familial, autosomal recessive - - 9m - WB no SGCG/SGCA/SGCB, SGCD reduced;IHC SGCD patchy Elena Popescu 00133994
0000106744 severe; white crystallin trace of thymidine residuals; 25y-FVC 0.50; no intellectual disability (-HP:0001249); 7y-inable to walk (HP:0002540); 6y-inable to walk; 6y-inable to sit muscular dystrophy, Duchenne-like - Familial, autosomal recessive - - 4y7m - WB SGCG/SGCA/SGCB/SGCD absent Elena Popescu 00133995
0000106745 severe, suspected DMDL untill SGCG variant was found; ; white crystallin trace of thymidine residuals; 35y-FVC 0.70; no intellectual disability (-HP:0001249); 14y-inable to walk (HP:0002540); 14y-inable to walk (HP:0002540) and sit muscular dystrophy, Duchenne-like - Familial, autosomal recessive - - 7y2m - WB SGCG/SGCA/SGCB absent, SGCD reduced; IHC SGCD patchy Elena Popescu 00133996
0000106754 >50x elevated CPK (HP:0003236) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - IHC no SGCG, mild reduction SGCA, normal DMD/LAMA2/SGCB/SGCD Masafumi Matsuo 00134005
0000106755 >50x elevated CPK (HP:0003236) muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - IHC no SGCG, patchy SGCA/SGCB, normal DMD/LAMA2/SGCD Masafumi Matsuo 00134006
0000106763 - muscular dystrophy, Duchenne-like - Isolated (sporadic) - - - - - Imane Dalichaouche 00134014
0000110006 born at term, 3.4 Kg, 50.8 cm; significant hypotonia, joint laxity, severe tracheomalacia and reflux (tracheotomy, G-tube), pyloric stenosis; 14m-small size (weight/length 20th centile), head circumference 15th centile, flattened nasal bridge, hyperterlorism, persistent micrognathia, decreased head control, decreased muscle mass (upper/lower extremities), hypotonia (central/distal hypotonia); 16m-extreme hypotonia, hyperflexible joints, tracheostomy assisted breathing, not ambulant, could not sit unsupported; elevated serum CPK (HP:0003236) 1,306 U/L dystrophy, muscular, atypical - Isolated (sporadic) - - 8d intractable vomiting, lethargy, micrognathia, dysmorphic features WB DMD reduced size Johan den Dunnen 00137258
0000110007 pregnancy advanced maternal age (41y), exposure drugs/alcohol, mother cognitively impaired (dysmorphic facial features); born 29w (emergency cesarean delivery, fetal compromise and breech position), hypotonic, facial features similar Down syndrome (flat midface, epicanthal folds, periorbital edema), weight 794g; 18m-hypotonia, dysmorphic features (wide spaced eyes, flat nasal bridge); 22m-developmentally delayed, persistent hypotonia, speech delay, macroglossia; muscle biopsy early dystrophic pattern, myopathic grouping of regenerating fibers; elevated serum CPK (HP:0003236) 2,583 U/L; motor ability able to 22m, walk 27m dystrophy, muscular, atypical - Isolated (sporadic) - - 18m - WB DMD, DYSF, CAPN3 normal, DAG1 decreased, IHC DMD normal Johan den Dunnen 00137259
0000110008 4y8m-global developmental delay, speech apraxia, severe speech/motor impediments, delayed ambulation (3.5y), delayed phrased speech (4y); 4y11m-height 101.6 cm (5th centile), weight 15.9 Kg (10th centile), frequent falling, lordotic gait, walked with wide base of support with foot flat to toe-off gait pattern, low muscle tone, bilaterally decreased hip flexion, Calf hypertrophy, positive Gower’s sign, heart abnormalities; elevated serum CPK (HP:0003236) 25,829 U/L; delayed motor ability dystrophy, muscular, atypical - Isolated (sporadic) - - 4y8m developmental delay, hypothyroidism - Johan den Dunnen 00137260
0000110009 - dystrophy, muscular, atypical - Familial - - 1d profound hypotonia, heart murmur - Johan den Dunnen 00137261
0000110010 elevated serum CPK (HP:0003236) 739 U/L dystrophy, muscular, atypical - Familial - - - - - Johan den Dunnen 00137262
0000117265 contractures (HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627) dystrophy, muscular LGMD-2C Unknown 9y - 5y - - Johan den Dunnen 00144525
0000117266 intermediate severity; contractures (HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); 12y-onset respiratory involvement (HP:0002086); no cardiac involvement (-HP:0001627); 14y-loss ability to walk (HP:0006957) dystrophy, muscular LGMD-2C Unknown 13y - 8y - - Johan den Dunnen 00144526
0000117268 no contractures (-HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627) dystrophy, muscular LGMD-2C Unknown 6y - 4y - - Johan den Dunnen 00144528
0000117269 intermediate severity; contractures (HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); 15y-onset respiratory involvement (HP:0002086); no cardiac involvement (-HP:0001627); 14y-loss ability to walk (HP:0006957) dystrophy, muscular LGMD-2C Unknown 19y - 6y - - Johan den Dunnen 00144529
0000117270 contractures (HP:0001371) muscle; no calf hypertrophy (-HP:0008981); no macroglossia (-HP:0000158); 11y-onset respiratory involvement (HP:0002086); no cardiac involvement (-HP:0001627) dystrophy, muscular - Unknown 10y - 10y - - Johan den Dunnen 00144530
0000117271 contractures (HP:0001371) muscle; no calf hypertrophy (-HP:0008981); no macroglossia (-HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627) dystrophy, muscular - Unknown 9y - 2y - - Johan den Dunnen 00144531
0000117273 no contractures (-HP:0001371) muscle; no calf hypertrophy (-HP:0008981); no macroglossia (-HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627) dystrophy, muscular - Unknown 9y - 2y - - Johan den Dunnen 00144533
0000117274 no contractures (-HP:0001371) muscle; no calf hypertrophy (-HP:0008981); no macroglossia (-HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627) dystrophy, muscular - Unknown 14y - 2y - - Johan den Dunnen 00144534
0000117275 no contractures (-HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627) dystrophy, muscular - Unknown 12y - 3y - - Johan den Dunnen 00144535
0000117276 severe; contractures (HP:0001371) muscle; no calf hypertrophy (-HP:0008981); no macroglossia (-HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627); 8y-loss ability to walk (HP:0006957) dystrophy, muscular - Unknown 15y - 3y - - Johan den Dunnen 00144536
0000117280 no contractures (-HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627) dystrophy, muscular - Unknown 22y - 12y - - Johan den Dunnen 00144540
0000117281 mild severity; contractures (HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); 16y-onset respiratory involvement (HP:0002086); 20y-onset cardiac problems (HP:0001627); 25y-loss ability to walk (HP:0006957) dystrophy, muscular - Unknown 34y - 4y - - Johan den Dunnen 00144541
0000117282 no contractures (-HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627) dystrophy, muscular LGMD-2C Unknown 9y - 5y - - Johan den Dunnen 00144542
0000117283 mild severity; contractures (HP:0001371) muscle; no calf hypertrophy (-HP:0008981); no macroglossia (-HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627); dystrophy, muscular - Unknown 18y - 14y - - Johan den Dunnen 00144543
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