Phenotypes for disease #07052 (adrenal hyperplasia (adrenal hyperplasia))

111 entries on 2 pages. Showing entries 1 - 100.
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0000333640 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; diarrhea; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 6m - Johan den Dunnen 00444387
0000333641 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; diarrhea; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 2m - Johan den Dunnen 00444388
0000333642 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; prolonged jaundice; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 20d - Johan den Dunnen 00444389
0000333643 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; vomiting; prolonged jaundice; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444390
0000333644 childhood-onset primary adrenal insufficiency LCAH dehydration; vomiting; diarrhea; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 2m - Johan den Dunnen 00444391
0000333645 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444392
0000333646 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; convulsion; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 3d - Johan den Dunnen 00444393
0000333647 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444394
0000333648 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 10d - Johan den Dunnen 00444395
0000333649 childhood-onset primary adrenal insufficiency LCAH dehydration; vomiting; diarrhea; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 2m - Johan den Dunnen 00444396
0000333650 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444397
0000333651 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; prolonged jaundice; no hyponatremia; no hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444398
0000333652 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 4m - Johan den Dunnen 00444399
0000333653 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 6m - Johan den Dunnen 00444400
0000333654 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 3m - Johan den Dunnen 00444401
0000333655 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 18d - Johan den Dunnen 00444402
0000333656 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; ambiguous external genitalia; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 10d - Johan den Dunnen 00444403
0000333657 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; diarrhea; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444404
0000333658 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 3d - Johan den Dunnen 00444405
0000333659 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444406
0000333660 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 23d - Johan den Dunnen 00444407
0000333661 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444408
0000333662 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; prolonged jaundice; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444409
0000333663 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting ; weight loss; small penis; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1m - Johan den Dunnen 00444410
0000333664 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; vomiting; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 6m - Johan den Dunnen 00444411
0000333665 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; vomiting; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1m9d - Johan den Dunnen 00444412
0000333666 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; weight loss; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 3d - Johan den Dunnen 00444413
0000333667 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting; weight loss; fatigue; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 7d - Johan den Dunnen 00444414
0000333668 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; vomiting ; weight loss; convulsion; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 13m - Johan den Dunnen 00444415
0000333669 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; prolonged jaundice; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444416
0000333670 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; no hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444417
0000333671 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; dehydration; convulsions; fever; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 3y6m - Johan den Dunnen 00444418
0000333672 childhood-onset primary adrenal insufficiency LCAH hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444419
0000333673 childhood-onset primary adrenal insufficiency - hyperpigmentation; large penis; advanced bone age; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 8m - Johan den Dunnen 00444420
0000333674 childhood-onset primary adrenal insufficiency - clitoral hypertrophy; hypertension; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444421
0000333675 childhood-onset primary adrenal insufficiency - clitoral hypertrophy; vomiting; diarrhea; hypertension; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 15d - Johan den Dunnen 00444422
0000333676 childhood-onset primary adrenal insufficiency - clitoral hypertrophy; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1m - Johan den Dunnen 00444423
0000333677 childhood-onset primary adrenal insufficiency - hypertension; central precocious puberty; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 4y - Johan den Dunnen 00444424
0000333678 childhood-onset primary adrenal insufficiency - hypertension; large penis; advanced bone age; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444425
0000333679 childhood-onset primary adrenal insufficiency - clitoral hypertrophy; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 18m - Johan den Dunnen 00444426
0000333680 childhood-onset primary adrenal insufficiency - hypertension; hyperpigmentation; clitoral hypertrophy ; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444427
0000333681 childhood-onset primary adrenal insufficiency - clitoral hypertrophy; advanced bone age; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444428
0000333682 childhood-onset primary adrenal insufficiency - hypertension; large penis; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 5y4m - Johan den Dunnen 00444429
0000333683 childhood-onset primary adrenal insufficiency - clitoral hypertrophy; hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444430
0000333684 childhood-onset primary adrenal insufficiency - clitoral hypertrophy; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444431
0000333685 childhood-onset primary adrenal insufficiency - small penis; skeletal malformation; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444432
0000333686 childhood-onset primary adrenal insufficiency - clitoral hypertrophy; skeletal malformation; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 2y - Johan den Dunnen 00444433
0000333687 childhood-onset primary adrenal insufficiency - skeletal malformation; ambiguous external genitalia; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444434
0000333688 childhood-onset primary adrenal insufficiency - newborn screening for elevated 17OHP; no hyponatremia; hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444435
0000333689 childhood-onset primary adrenal insufficiency - hypospadias; small penis ; hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 19d - Johan den Dunnen 00444436
0000333690 childhood-onset primary adrenal insufficiency - vomiting; diarrhea; hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 3m - Johan den Dunnen 00444437
0000333691 childhood-onset primary adrenal insufficiency - clitoral hypertrophy; hyponatremia; hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444438
0000333692 childhood-onset primary adrenal insufficiency - hypospadias; hyponatremia; hyperkalemia; no hypoglycemia; Familial, autosomal recessive - - 1d - Johan den Dunnen 00444439
0000333693 childhood-onset primary adrenal insufficiency - a small penis; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 4m - Johan den Dunnen 00444440
0000333694 childhood-onset primary adrenal insufficiency - ambiguous external genitalia; no hyponatremia; no hyperkalemia; no hypoglycemia; elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444441
0000333695 childhood-onset primary adrenal insufficiency - ambiguous external genitalia; hypospadias; no hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 3d - Johan den Dunnen 00444442
0000333696 childhood-onset primary adrenal insufficiency - ambiguous external genitalia; hypertension; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 12y - Johan den Dunnen 00444443
0000333697 childhood-onset primary adrenal insufficiency - without public hair; hypertension; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 11y - Johan den Dunnen 00444444
0000333698 P450scc deficiency - ambiguous external genitalia; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444445
0000333699 adrenal hypoplasia AHC vomiting; hyperpigmentation; dehydration; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 1m - Johan den Dunnen 00444446
0000333700 adrenal hypoplasia AHC hyperpigmentation; hypoglycemia; no hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 2d - Johan den Dunnen 00444447
0000333701 adrenal hypoplasia AHC hyperpigmentation; weight loss; no hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 7d - Johan den Dunnen 00444448
0000333702 adrenal hypoplasia AHC hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 6m - Johan den Dunnen 00444449
0000333703 adrenal hypoplasia AHC hyperpigmentation; dehydration; weight loss; vomiting; diarrhea; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 15d - Johan den Dunnen 00444450
0000333704 adrenal hypoplasia AHC hyperpigmentation; dehydration; vomiting; infection; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 3y - Johan den Dunnen 00444451
0000333705 adrenal hypoplasia AHC hyperpigmentation; no hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 1d - Johan den Dunnen 00444452
0000333706 adrenal hypoplasia AHC hyperpigmentation; dehydration; prolonged jaundice; convulsions; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 1d - Johan den Dunnen 00444453
0000333707 adrenal hypoplasia AHC hyperpigmentation; dehydration; abdominal pain; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 4y3m - Johan den Dunnen 00444454
0000333708 adrenal hypoplasia AHC hyperpigmentation; dehydration; vomiting; weight loss; recurrent infection; convulsions; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 1m - Johan den Dunnen 00444455
0000333709 adrenal hypoplasia AHC dehydration; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 1m - Johan den Dunnen 00444456
0000333710 adrenal hypoplasia AHC hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 3y - Johan den Dunnen 00444457
0000333711 adrenal hypoplasia AHC hyperpigmentation; dehydration; vomiting convulsion; weight loss; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 3d - Johan den Dunnen 00444458
0000333712 adrenal hypoplasia AHC hyperpigmentation; dehydration; vomiting; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 3y - Johan den Dunnen 00444459
0000333713 adrenal hypoplasia AHC hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 14m - Johan den Dunnen 00444460
0000333714 adrenal hypoplasia AHC hyperpigmentation; fatigue; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - - - Johan den Dunnen 00444461
0000333715 adrenal hypoplasia AHC hyperpigmentation; convulsion; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 3d - Johan den Dunnen 00444462
0000333716 adrenal hypoplasia AHC hyperpigmentation; dehydration; diarrhea; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 1m - Johan den Dunnen 00444463
0000333717 adrenal hypoplasia AHC hyperpigmentation; dehydration; vomiting; fatigue; recurrent infection; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 3y - Johan den Dunnen 00444464
0000333718 adrenal hypoplasia AHC dehydration; vomiting; hyperpigmentation; weight loss; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 7d - Johan den Dunnen 00444465
0000333719 adrenal hypoplasia AHC hyperpigmentation; fever; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 19d - Johan den Dunnen 00444466
0000333720 adrenal hypoplasia AHC hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 1m - Johan den Dunnen 00444467
0000333721 adrenal hypoplasia AHC hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 1m - Johan den Dunnen 00444468
0000333722 adrenal hypoplasia AHC hyperpigmentation; dehydration; convulsion; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 11m - Johan den Dunnen 00444469
0000333723 adrenal hypoplasia AHC hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 11d - Johan den Dunnen 00444470
0000333724 adrenal hypoplasia AHC hyperpigmentation; dehydration; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 13d - Johan den Dunnen 00444471
0000333725 adrenal hypoplasia AHC hyperpigmentation; dehydration; vomiting; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 25d - Johan den Dunnen 00444472
0000333726 adrenal hypoplasia AHC hyperpigmentation; dehydration; prolonged jaundice; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 15d - Johan den Dunnen 00444473
0000333727 adrenal hypoplasia AHC vomiting; hyperpigmentation; fatigue; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 3y - Johan den Dunnen 00444474
0000333728 adrenal hypoplasia AHC hyperpigmentation; dehydration vomiting; abdominal pain; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 5y - Johan den Dunnen 00444475
0000333729 adrenal hypoplasia AHC hyperpigmentation; vomiting; fatigue; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 6m - Johan den Dunnen 00444476
0000333730 adrenal hypoplasia AHC hyperpigmentation; dehydration; weight loss intellectual disability; hypermyotonia; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 9d - Johan den Dunnen 00444477
0000333731 adrenal hypoplasia AHC hyperpigmentation; fatigue; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 9y - Johan den Dunnen 00444478
0000333732 adrenal hypoplasia AHC hyperpigmentation; vomiting; dehydration; infections; muscular dystrophy; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 20d - Johan den Dunnen 00444479
0000333733 adrenal hypoplasia AHC hyperpigmentation; dehydration; vomiting; prolonged jaundice; convulsions; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 5d - Johan den Dunnen 00444480
0000333734 adrenal hypoplasia AHC hyperpigmentation; vomiting; convulsion; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 3d - Johan den Dunnen 00444481
0000333735 adrenal hypoplasia AHC hyperpigmentation; fatigue; recurrent infections; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 3y - Johan den Dunnen 00444482
0000333736 adrenal hypoplasia AHC vomiting; hyperpigmentation; diarrhea; no hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 3y - Johan den Dunnen 00444483
0000333737 adrenal hypoplasia AHC vomiting; hyperpigmentation; dehydration; weight loss; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP Familial, X-linked recessive - - 12m - Johan den Dunnen 00444484
0000333738 MIRAGE syndrome MIRAGE dehydration; intrauterine growth retardation; asphyxia neonatorum; convulsions; infections; MODS; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal dominant - - 1d - Johan den Dunnen 00444485
0000333739 glucocorticoid deficiency GCCD2 hyperpigmentation; dehydration; recurrent infections; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP Familial, autosomal recessive - - 1d - Johan den Dunnen 00444486
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