Phenotypes for disease #04293

595 entries on 6 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6     Next › Last »

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Birth_Details     

MotorSkills     

Vision/Abnormality     

Vision/Other     

Hearing/Loss     

Eye/Optic_Disc     

Protein     

Eye/OCT     

Habits     

Histology     

Brain/Imaging     

Vision/Acuity     

Vision/Colour     

Vision/Field     

Owner     

Individual ID     
0000034038 optic atrophy - - Unknown - - - - - - - - - - - - - - - - - - Johan den Dunnen 00043809
0000052029 Ataxia, Myopathy - - Familial, autosomal dominant - - - - - - - - - - - - - - - - - - Tonino Ercolino 00072359
0000060409 autosomal dominant optic atrophy optic atrophy OPA-1 Isolated (sporadic) - - - - - - - - - - - - - - - - - - Daniel Trujillano 00080840
0000067587 Optic atrophy, nonsyndromic - OPA-7 Unknown - 51 - - - - - - - - - - - - - - - - Andreas Laner 00088081
0000081896 optic atrophy (according to referring physician no signs of a neuropathy, optic atrophy only phenotype) optic atrophy OPA-1 Unknown - 45y - - - - - - - - - - - - - - - - Andreas Laner 00103965
0000083320 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105424
0000083321 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105425
0000083322 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105426
0000083323 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105427
0000083324 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105428
0000083325 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105429
0000083326 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105430
0000083327 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105431
0000083328 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105432
0000083329 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105433
0000083330 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105434
0000083331 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105435
0000083332 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105436
0000083333 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105437
0000083334 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105438
0000083335 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105439
0000083336 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105440
0000083337 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105441
0000083338 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105442
0000083339 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105443
0000083340 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105444
0000083341 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105445
0000083342 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105446
0000083343 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105447
0000083344 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105448
0000083345 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105449
0000083346 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105450
0000083347 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105451
0000083348 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105452
0000083349 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105453
0000083350 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105454
0000083351 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105455
0000083352 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105456
0000083353 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105457
0000083354 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105458
0000083355 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105459
0000083356 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105460
0000083357 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105461
0000083358 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105462
0000083359 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105463
0000083392 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105496
0000083393 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105497
0000083394 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105498
0000083395 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105499
0000083396 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105500
0000083397 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105501
0000083398 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105502
0000083399 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105503
0000083400 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105504
0000083401 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105505
0000083402 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105506
0000083403 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105507
0000083404 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105508
0000083405 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105509
0000083406 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105510
0000083407 autosomal dominant optic atrophy; this patient most severely affected family member optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105511
0000083408 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105512
0000083409 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105513
0000083410 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105514
0000083411 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105515
0000083412 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105516
0000083413 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105517
0000083414 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105518
0000083415 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105519
0000083416 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105520
0000083417 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105521
0000083418 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105522
0000083419 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105523
0000083420 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105524
0000083421 autosomal dominant optic atrophy optic atrophy OPA+ Unknown - - - - - - - - hearing loss - - - - - - - - - Marc Ferre 00105525
0000083422 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105526
0000083423 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105527
0000083424 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105528
0000083425 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105529
0000083426 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105530
0000083427 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105531
0000083428 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105532
0000083429 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105533
0000083430 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105534
0000083433 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105537
0000083434 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105538
0000083435 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105539
0000083436 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105540
0000083437 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105541
0000083438 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105542
0000083439 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105543
0000083440 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105544
0000083441 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105545
0000083442 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105546
0000083443 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105547
0000083444 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105548
0000083445 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105549
0000083446 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105550
0000083447 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Marc Ferre 00105551
0000083455 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - - - Marc Ferre 00105559
Legend   « First ‹ Prev     1 2 3 4 5 6     Next › Last »