Phenotypes for disease #00141

179 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     

Individual ID     
0000000654 - Familial, autosomal recessive - - - - - - - Johan den Dunnen 00001239
0000043162 - Isolated (sporadic) - - - 0d hypotonia; microcephaly no prenatal findings; mild intellectual delay; epilepsy; no ophthalmologic findings; no cardiorespiratory findings; brain MRI no structural abnormality; max motor ability run - Johan den Dunnen 00056474
0000043167 - Isolated (sporadic) - - - 4y mild exercise intolerance no prenatal findings; normal cognitive function; no ophthalmologic findings; no cardiorespiratory findings; CPK 3,000 max U/l; max motor ability run - Johan den Dunnen 00056479
0000043168 - Isolated (sporadic) - - - 2y6m difficulty climbing staris, microcephaly no prenatal findings; mild intellectual delay; epilepsy; cataracts; nystagmus; wandering atrial pacemaker; cardiomyopathy; respiratory insufficiency; brain MRI no structural abnormality; CPK 5,200 max U/l; max motor ability run - Johan den Dunnen 00056480
0000051340 - Familial, autosomal recessive - - - - - atypical phenotype, no classical features of desminopathy, neither cardiomyopathy nor typical histological changes; IF staining/WB analysis show preserved expression cytoskeletal network formation variant desmin in skeletal muscle fibres - Johan den Dunnen 00065233
0000059299 - Unknown - - - - - - - Johan den Dunnen 00079575
0000059301 - Unknown - - - - - - - Johan den Dunnen 00079577
0000078601 - Familial, autosomal recessive 08y - - 05y myoglobinuria see paper; ..., dark urine 10d after episode of fever and sore throat treated with antibiotics; 8y-mild waddling gait, lumbar hyperlordosis, slightly positive Gower’s maneuver, CPK 8,000–12,000 U/L - Johan den Dunnen 00100410
0000106180 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) Isolated (sporadic) - - - - - - WB SGCA reduced, no SGCG Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq 00133433
0000106643 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) Unknown - dystrophy, muscular, limb-girdle, type 2C (LGMD-2C) - - - - - Ieke Ginjaar 00133894
0000106672 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) Isolated (sporadic) - dystrophy, muscular, limb-girdle, type 2C (LGMD-2C) - - - - WB no SGCA, no SGCG Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq 00133923
0000106673 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) Isolated (sporadic) - dystrophy, muscular, limb-girdle, type 2C (LGMD-2C) - - - - WB no SGCA, no SGCG Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq 00133924
0000106674 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) Unknown - dystrophy, muscular, limb-girdle, type 2C (LGMD-2C) - - - - WB no SGCA, no SGCG Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq 00133925
0000106675 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) Unknown - dystrophy, muscular, limb-girdle, type 2C (LGMD-2C) - - - - - Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq 00133926
0000106676 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) Isolated (sporadic) - dystrophy, muscular, limb-girdle, type 2C (LGMD-2C) - - - - WB no SGCA, no SGCG Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq 00133927
0000106757 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) Unknown - dystrophy, muscular, limb-girdle, type 2C (LGMD-2C) - - - - - Johan den Dunnen 00134008
0000119306 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - - - - - Johan den Dunnen 00146567
0000119307 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 05y-10y - - - Rolf Stucka 00146568
0000119308 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - - - - - Rolf Stucka 00146569
0000119309 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 15y-25y - - - Rolf Stucka 00146570
0000119310 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 8y - - - Rolf Stucka 00146572
0000119311 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146573
0000119312 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - 02y-25y - 4/14 cardiomyopathy, 9/17 calf hypertrophy; CPK 33x mean - Johan den Dunnen 00146575
0000119313 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Marianne Schwartz 00146577
0000119314 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 13y - lost ambulation 42y - Johan den Dunnen 00146579
0000119315 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - 7y - - - Johan den Dunnen 00146580
0000119316 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - 49y - - - Johan den Dunnen 00146581
0000119317 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 11y - mild, able to walk; CPK 13x IHC: DAG1 irregular Johan den Dunnen 00146582
0000119318 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 5y weakness of thighs since 5y CPK >2000 no LAMA2 reduction Lab Müller-Reible 00146583
0000119319 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 30y - EMG compatible with chronic myopathy, dilated cardiomyopathy; CPK 1500 IHC LAMA2 normal, DAG1 reduced and irregula Johan den Dunnen 00146597
0000119320 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 15y - EMG compatible with chronic myopathy, ambulant 45y; CPK 361 IHC LAMA2 normal, DAG1 reduced and irregular Johan den Dunnen 00146598
0000119321 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I 29y 14y shoulder girdle atrophy mild with hCK, remained ambulant; CPK 6x - Johan den Dunnen 00146600
0000119322 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 2y - - - Lab Müller-Reible 00146603
0000119323 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Akanchha Kesari 00146604
0000119324 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - - - - - Johan den Dunnen 00146607
0000119325 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Lab Müller-Reible 00146608
0000119326 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Johan den Dunnen 00146626
0000119327 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - - - - IHC DMD/LAMA2 normal, SGCs, sarcospan, UTRN, DYSF, CAV3, DTN, colIV/VI, betaDAG1, alphaDAG1 reduced; WB 300 kDa reduced/80 kDa near absent Johan den Dunnen 00146627
0000119328 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146633
0000119330 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - - - 26y - hyperCKemia (CPK 22x), able to walk IHC: DAG1 absent Johan den Dunnen 00146641
0000119331 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146642
0000119332 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 3y - - - Johan den Dunnen 00146644
0000119333 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 7y - - - Johan den Dunnen 00146645
0000119334 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 5y - lost ambulation 25y - Johan den Dunnen 00146646
0000119335 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 37y - - - Johan den Dunnen 00146647
0000119336 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Akanchha Kesari 00146648
0000119337 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 17y - mild; CPK 21x - Johan den Dunnen 00146649
0000119338 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 3y - mild, difficulty climbing stairs; CPK 12x IHC: DAG1 irregular Johan den Dunnen 00146653
0000119339 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Johan den Dunnen 00146654
0000119340 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146661
0000119341 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 50y - - - Chiara Boito 00146667
0000119342 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146669
0000119343 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Lab Müller-Reible 00146672
0000119344 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146676
0000119345 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146677
0000119346 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - 9y - - - Rolf Stucka 00146682
0000119347 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - 3y - - - Rolf Stucka 00146683
0000119348 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146684
0000119349 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - 12y - - - Rolf Stucka 00146685
0000119350 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 15y - - - Rolf Stucka 00146686
0000119351 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 20y - - - Rolf Stucka 00146687
0000119352 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 32y - - - Rolf Stucka 00146688
0000119353 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146689
0000119354 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146690
0000119355 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - 03y-05y - lost ambulation 12/17y - Johan den Dunnen 00146691
0000119356 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146692
0000119357 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Johan den Dunnen 00146693
0000119358 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - - - - - Lab Müller-Reible 00146697
0000119359 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Lab Müller-Reible 00146698
0000119360 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Johan den Dunnen 00146700
0000119361 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Johan den Dunnen 00146701
0000119362 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I 44y 40y - mild, able to walk; CPK x6 IHC: DAG1 irregular Johan den Dunnen 00146702
0000119363 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Johan den Dunnen 00146703
0000119364 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Lab Müller-Reible 00146704
0000119365 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Lab Müller-Reible 00146706
0000119366 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Lab Müller-Reible 00146707
0000119367 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - - - - - Lab Müller-Reible 00146710
0000119368 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Johan den Dunnen 00146712
0000119369 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Akanchha Kesari 00146713
0000119370 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Akanchha Kesari 00146714
0000119371 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Akanchha Kesari 00146716
0000119372 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - 22y - - - Johan den Dunnen 00146717
0000119373 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 14y - lost ambulation 24y - Johan den Dunnen 00146718
0000119374 dystrophy, muscular, limb-girdle, autosomal recessive Familial - LGMD-2I - 35y - one asymptomatic - Johan den Dunnen 00146719
0000119375 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 40y - lost ambulation 69y - Johan den Dunnen 00146720
0000119376 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 25y - mild, able to walk; CPK 7x IHC: DAG1 absent Johan den Dunnen 00146724
0000119377 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - - - - - Lab Müller-Reible 00146727
0000119378 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - - - - - Lab Müller-Reible 00146731
0000119379 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Lab Müller-Reible 00146736
0000119380 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Tom Winder 00146737
0000119383 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - - - - - Lab Müller-Reible 00146753
0000119384 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 12y - - - Rolf Stucka 00146754
0000119385 dystrophy, muscular, limb-girdle, autosomal recessive Isolated (sporadic) - LGMD-2I - 2y - lost ambulation 13y - Johan den Dunnen 00146755
0000119386 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - - - - - Johan den Dunnen 00146756
0000119387 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - 54y - Moderate; hypertrophy, left ventricular hypocinesia; respiratory function restrictive; CPK 37x ? Johan den Dunnen 00146758
0000119388 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - 33y - Moderate; CPK 45x IHC DAG normal Johan den Dunnen 00146759
0000119389 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - 28y - Slow; cardiac function ; respiratory function normal; CPK 21x ? Johan den Dunnen 00146760
0000119390 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - 32y - Slow; cardiac function ; respiratory function normal; CPK 35x ? Johan den Dunnen 00146761
0000119391 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - 8y - Slow; cardiac function ; respiratory function normal; CPK 25x IHC DAG abnormal Johan den Dunnen 00146762
0000119392 dystrophy, muscular, limb-girdle, autosomal recessive Unknown - LGMD-2I - 5y - cardiac function ; respiratory function normal; CPK 5x IHC DAG abnormal Johan den Dunnen 00146763
Legend   « First ‹ Prev     1 2     Next › Last »