Phenotypes for disease #04360

98 entries on 1 page. Showing entries 1 - 98.
Legend  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000041431 - - - Unknown - - - - - Antoine Rimbert 00054755
0000041432 - - - Familial, autosomal dominant - - - - - Antoine Rimbert 00054756
0000041433 - - - Familial, autosomal dominant - - - - - Antoine Rimbert 00054757
0000041435 - - - Unknown - - - - - Antoine Rimbert 00054759
0000041457 - - - Familial, autosomal dominant - - - - - Antoine Rimbert 00054754
0000154681 - familial hypobetalipoproteinemia FHBL-1 Familial, autosomal recessive - - - - - Johan den Dunnen 00206891
0000154682 - familial hypobetalipoproteinemia FHBL-1 Familial, autosomal recessive - - - - - Johan den Dunnen 00206892
0000154683 - familial hypobetalipoproteinemia FHBL-1 Familial, autosomal recessive - - - - - Johan den Dunnen 00206893
0000154684 - familial hypobetalipoproteinemia FHBL-1 Familial, autosomal recessive - - - - - Johan den Dunnen 00206894
0000154685 - familial hypobetalipoproteinemia FHBL-1 Familial, autosomal recessive - - - - - Johan den Dunnen 00206895
0000188412 - - - Familial, autosomal dominant - - - - - - 00249447
0000188414 - - - Familial, autosomal dominant - 22y - - - Amanda Hooper 00249452
0000188415 - - - Familial, autosomal dominant - 37y - - - Amanda Hooper 00249453
0000188416 - - - Familial, autosomal dominant - 37y - - - Amanda Hooper 00249454
0000188417 - - - Familial, autosomal dominant - 77y - - - Amanda Hooper 00249457
0000188418 - - - Familial, autosomal dominant - 27y - - - Amanda Hooper 00249458
0000188419 - - - - - 44y - - - Amanda Hooper 00249459
0000188420 - - - - - 70y - - - Amanda Hooper 00249460
0000188421 - - - - - 55y - - - Amanda Hooper 00249461
0000188422 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249462
0000188423 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249463
0000188424 - - - Familial, autosomal dominant - 32y - - - Amanda Hooper 00249464
0000188425 - - - Familial, autosomal dominant - 77y - - - Amanda Hooper 00249465
0000188426 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249466
0000188427 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249467
0000188428 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249469
0000188429 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249470
0000188430 - - - Familial, autosomal dominant - 25y - - - Amanda Hooper 00249472
0000188431 - - - Familial, autosomal dominant - 42y - - - Amanda Hooper 00249473
0000188432 - - - Familial, autosomal dominant - 50y - - - Amanda Hooper 00249474
0000188433 - - - Familial, autosomal dominant - 46y - - - Amanda Hooper 00249475
0000188434 - - - Familial, autosomal dominant - 42y - - - Amanda Hooper 00249476
0000188435 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249477
0000188436 - - - - - 33y - - - Amanda Hooper 00249479
0000188437 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249480
0000188438 - - - Familial, autosomal dominant - 10y - - - Amanda Hooper 00249485
0000188439 - - - Familial, autosomal dominant - 26y - - - Amanda Hooper 00249486
0000188440 - - - Familial, autosomal dominant - 83y - - - Amanda Hooper 00249487
0000188441 - - - Familial, autosomal dominant - 40y - - - Amanda Hooper 00249488
0000188442 - - - Familial, autosomal dominant - 38y - - - Amanda Hooper 00249489
0000188443 - - - Familial, autosomal dominant - 64y - - - Amanda Hooper 00249490
0000188444 - - - Familial, autosomal dominant - 45y - - - Amanda Hooper 00249491
0000188445 - - - - - 8y - - - Amanda Hooper 00249493
0000188446 - - - Familial, autosomal dominant - 24y - - - Amanda Hooper 00249509
0000188447 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249518
0000188448 cirrhosis - - Familial, autosomal dominant - 27y - - - Amanda Hooper 00249519
0000188449 - - - Familial, autosomal dominant - 11y - - - Amanda Hooper 00249520
0000188450 - - - Familial, autosomal dominant - 37y - - - Amanda Hooper 00249521
0000188451 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249522
0000188452 - - - Familial, autosomal dominant - 18y - - - Amanda Hooper 00249523
0000188453 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249524
0000188454 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249525
0000188455 - - - Familial, autosomal dominant - 81y - - - Amanda Hooper 00249526
0000188456 fatty liver - - - - 63y - - - Amanda Hooper 00249527
0000188457 - - - Familial, autosomal dominant - 33y - - - Amanda Hooper 00249528
0000188459 - - - Familial, autosomal dominant - - - - - - 00249530
0000188460 - - - Familial, autosomal dominant - 17y - - - Amanda Hooper 00249532
0000188461 hepatic steatosis - - - - 54y - - - - 00249533
0000188462 atypical retinitis pigmentosa - - Familial, autosomal dominant - - - - - - 00249534
0000188463 - - - Familial, autosomal dominant - 40y - - - Amanda Hooper 00249536
0000188464 fatty liver - - Familial, autosomal dominant - 37y - - - - 00249537
0000188465 - - - Familial, autosomal dominant - 62y - - - - 00249538
0000188466 - - - Familial, autosomal dominant - 30y - - - - 00249539
0000188467 Down syndrome, NAFLD - - Familial, autosomal dominant - 19y - - - - 00249540
0000188468 steatorrhoea, fatty liver - - Familial, autosomal dominant - 67y - - - - 00249541
0000188469 - - - Familial, autosomal dominant - - - - - Amanda Hooper 00249544
0000188470 compound heterozygote - - Familial, autosomal dominant - - - - - Amanda Hooper 00249546
0000188471 compound heterozygote - - Familial, autosomal dominant - - 4m - - Amanda Hooper 00249548
0000188472 - - - - - 29y - - - Amanda Hooper 00249549
0000188473 - - - Familial, autosomal dominant - 11y - - - Amanda Hooper 00249550
0000188474 Homozygous FHBL - - Familial, autosomal dominant - - - - - Amanda Hooper 00249552
0000188475 - - - Isolated (sporadic) - - 11y - - Amanda Hooper 00249554
0000188476 homozygous FHBL - - Familial, autosomal dominant - 47y - - - Amanda Hooper 00249557
0000188477 - - - Familial, autosomal dominant - 44y - - - - 00249558
0000188478 homozygous FHBL - - Familial, autosomal dominant - 11m - - - - 00249560
0000188479 Compound heterozygote - - - - 55y - - - Amanda Hooper 00249564
0000188480 Homozygous FHBL - - Familial, autosomal dominant - 4y - - - Amanda Hooper 00249565
0000188481 Compound heterozygote - - Familial, autosomal dominant - - - - - Amanda Hooper 00249567
0000188483 mental retardation, ataxia - - Familial, autosomal dominant - 12y - - - Amanda Hooper 00249571
0000188484 homozygous FHBL - - Familial, autosomal dominant - 1m - - - - 00249572
0000188485 homozygous FHBL - - Familial, autosomal dominant - 19y - - - Amanda Hooper 00249573
0000188486 - - - Familial, autosomal dominant - 21y - - - Amanda Hooper 00249574
0000188487 homozygous FHBL - - Familial, autosomal dominant - 2y - - - Amanda Hooper 00249575
0000188488 - - - Familial, autosomal dominant - 8y - - - Amanda Hooper 00249577
0000188489 extremely low LDL - - Familial, autosomal dominant - - - - - - 00249580
0000188490 - - - Familial, autosomal dominant - 57y - - - Amanda Hooper 00249581
0000188491 homozygous FHBL - - Familial, autosomal dominant - 21y - - - Amanda Hooper 00249582
0000188492 compound heterozygote - - Familial, autosomal dominant - 52y - - - Amanda Hooper 00249583
0000188493 - - - - - 48y - - - - 00249586
0000188494 - - - Familial, autosomal dominant - - - - - Sigrid Fouchier 00249587
0000188495 - - - Familial, autosomal dominant - - - - - Sigrid Fouchier 00249588
0000188496 homozygous FHBL - - - - - - - - Amanda Hooper 00249593
0000188497 - - - Familial, autosomal dominant - 33y - - - - 00249602
0000188498 - - - - - 33y - - - Amanda Hooper 00249615
0000188501 - - - Familial, autosomal dominant - - - - - Sigrid Fouchier 00249621
0000188502 fatty liver - - Familial, autosomal dominant - 41y - - - - 00249625
0000188503 Also has spastic paraplegia (SPG11) - - Familial, autosomal dominant - 30y - - - - 00249627
0000188504 - - - Familial, autosomal dominant - 41y - - - Amanda Hooper 00249629
Legend