Genetic Disorders
Following is a list of possible genetic disorders for your lab report. The key information for the report will be:
Name of Disorder
Genetic Description of Disorder & Symptoms
Cause of the Disorder
Possible Treatments

Please refer to page 118 in your lab manual for an outline. The suggested length of the report is 1-3 pages, and references should be provided (preferably in APA format). If you have any additional questions about the report material, please let me know!
  1. Cystic Fibrosis
  2. Fanconi Anemia
  3. Hartnup's Disease
  4. Kartagener's Syndrome
  5. Pyruvate Dehydrogenase Deficiency
  6. Xeroderma Pigmentosum
  7. Familial Hypercholesterolemia
  8. Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
  9. Hereditary Spherocytosis
  10. Huntington's Disease
  11. Marfan's Syndrome
  12. Neurofibromatosis (Von Recklinghausen Disease)
  13. Tuberous Sclerosis
  14. Von Hippel-Lindau Syndrome
  15. Congenital Fructose Intolerance
  16. Galactosemia
  17. Angelman Syndrome
  18. Cri du Chat Syndrome
  19. Down Syndrome (Trisomy 21)
  20. Edward's Syndrome (Trisomy 18)
  21. Patau's Syndrome (Trisomy 13)
  22. Prader-Willi Syndrome
  23. Fragile-X Syndrome
  24. Klinefelter's Syndrome (XXY)
  25. Turner's Syndrome (XO)
  26. XXX Syndrome
  27. Ehlers-Danlos Syndrome
  28. Osteogenesis Imperfecta
  29. Cori's Disease (Glycogen Storage Disease Type III)
  30. McArdle's Disease (Glycogen Storage Disease Type V)
  31. Pompe's Disease (Glycogen Storage Disease Type II)
  32. Von Gierke's Disease (Glycogen Storage Disease Type I)
  33. Hemophilia A (Factor VIII deficiency)
  34. Hemophilia B (Factor IX deficiency)
  35. Von Willebrand Disease
  36. Ataxia-Telangiectasia
  37. Chédiak-Higashi Syndrome
  38. Chronic Granulomatous Disease
  39. Chronic Mucocutaneous Candidiasis
  40. Job's Syndrome
  41. Selective IgA Deficiency
  42. Severe Combined Immunodeficiency (SCID)
  43. Thymic Aplasia (DiGeorge Syndrome)
  44. Wiskott-Aldrich Syndrome
  45. X-Linked Agammaglobulinemia (Bruton's Disease)
  46. Fabry's Disease
  47. Gaucher's Disease
  48. Niemann-Pick Lipidosis
  49. Hunter's Syndrome
  50. Hurler's Syndrome
  51. Tay-Sachs Disease
  52. Albinism
  53. Alkaptonuria
  54. Homocystinuria
  55. Lesch-Nyhan Syndrome
  56. Maple Syrup Urine Disease
  57. Phenylketonuria (PKU)
  58. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
  59. Bartter's Syndrome
  60. Fanconi's Syndrome Type I (Child-onset cystinosis)
  61. Fanconi's Syndrome II (Adult-onset)
  62. Autosomal Recessive Polycystic Kidney Disease (ARPKD)
  63. Autosomal Dominant Polycystic Kidney Disease (ADPKD)
copyright © 2003-2004, Kevin Kelleher
Questions or comments?... drop me an email!