Specific Genetic Disorders

Specific Genetic Disorders list

1. Achondroplasia
2. Alpha-1 Antitrypsin Deficiency
3. Antiphospholipid Syndrome
4. Autism
5. Autosomal Dominant Polycystic Kidney Disease
6. Breast cancer check
7. Charcot-Marie-Tooth
8. Colon cancer
9. Cri du chat
10. Crohn's Disease
11. Cystic fibrosis
12. Dercum Disease
13. Specific Genetic Disorders
14. Down Syndrome
15. Duane Syndrome
16. Duchenne Muscular Dystrophy
17. Factor V Leiden Thrombophilia
18. Familial Hypercholesterolemia
19. Familial Mediterranean Fever
20. Fragile X Syndrome
21. Gaucher Disease
22. Hemochromatosis
23. Hemophilia
24. Holoprosencephaly
25. Huntington's disease
26. Klinefelter syndrome
27. Marfan syndrome
28. Myotonic Dystrophy
29. Neurofibromatosis
30. Noonan Syndrome
31. Osteogenesis imperfecta
32. Parkinson's disease
33. Phenylketonuria
34. Poland Anomaly
35. Porphyria
36. Progeria
37. Prostate Cancer
38. Retinitis Pigmentosa
39. Severe Combined Immunodeficiency (SCID)
40. Sickle cell disease
41. Skin Cancer
42. Spinal Muscular Atrophy
43. Tay-Sachs
44. Thalassemia
45. Trimethylaminuria
46. Turner Syndrome
47. Velocardiofacial Syndrome
48. WAGR Syndrome
49. Wilson Disease

source:

http://www.genome.gov/10001204