Genetic Disorders

1. Ataxia Telangiectasia	2. Barth Syndrome
3. Blue Rubber Bleb Nevus Syndrome	4. Canavan Disease
5. Cri Du Chat Syndrome	6. Cystic Fibrosis
7. Dercum's Disease	8. Ectodermal Dysplasia
9. Fanconi Anemia	10. Fibrodysplasia Ossificans Progressiva
11. Fragile X Syndrome	12. Galactosemia
13. Gaucher Disease	14. Hemochromatosis
15. Hemophilia	16. Huntington's Disease
17. Hurler Syndrome	18. Hypophosphatasia
19. Klinefelter Syndrome	20. Krabbes Disease
21. Langer-Giedion Syndrome	22. Leukodystrophy
23. Long QT Syndrome	24. Marfan Syndrome
25. Moebius Syndrome	26. Mucopolysaccharidosis (MPS)
27. Nail Patella Syndrome	28. Nephrogenic Diabetes Insipidus
29. Neurofibromatosis	30. Niemann-Pick Disease
31. Osteogenesis Imperfecta	32. Porphyria
33. Prader-Willi Syndrome	34. Progeria
35. Proteus Syndrome	36. Retinoblastoma
37. Rett Syndrome	38. Rubinstein-Taybi Syndrome
39. Sanfilippo Syndrome	40. Shwachman Syndrome
41. Sickle Cell Disease	42. Smith-Magenis Syndrome
43. Stickler Syndrome	44. Tay-Sachs
45. Thrombocytopenia Absent Radius (TAR) Syndrome	46. Treacher Collins Syndrome
47. Trisomy	48. Tuberous Sclerosis
49. Turner's Syndrome	50. Urea Cycle Disorder
51. von Hippel-Lindau Disease	52. Waardenburg Syndrome
53. Williams Syndrome	54. Wilson's Disease