Genetic Disorders ( Conditions and Diseases )

  1. Aarskog Syndrome
  2. Aase Syndrome
  3. Ablepharon-Macrostomia Syndrome
  4. Acoustic Neuroma
  5. Adie Syndrome
  6. Adrenal Hyperplasia
  7. Adrenoleukodystrophy
  8. Aicardi Syndrome
  9. Alagille Syndrome
  10. Albinism
  11. Alfi's Syndrome
  12. Alkaptanuria
  13. Alopecia Areata
  14. Alpha Antitrypsin Deficiency
  15. Alström Syndrome
  16. Angelman Syndrome
  17. Apert Syndrome
  18. Arthrogryposis
  19. Aspartylglucosaminuria
  20. Ataxia
  21. Autism
  22. Bardet-Biedl Syndrome
  23. Barth Syndrome
  24. Batten Disease
  25. Beckwith+Wiedemann Syndrome
  26. Bloom Syndrome
  27. Branchio-Oto-Renal Syndrome
  28. Brugada Syndrome
  29. Canavan
  30. Celiac
  31. Cerebrocostomandibular Syndrome
  32. Charcot+Marie+Tooth Disease
  33. Choroideremia
  34. Cleidocranial Dysplasia
  35. Cockayne Syndrome
  36. Coffin Lowry Syndrome
  37. Cohen Syndrome
  38. Congenital Lactase Deficiency
  39. Congenital Pain Insensitivity
  40. Cornea Plana Congenita
  41. Cornelia De Lange Syndrome
  42. Costello Syndrome
  43. Cowden Syndrome
  44. Craniofrontonasal Dysplasia
  45. Cri du Chat Syndrome
  46. Crigler+Najjar Syndrome
  47. Currarino Syndrome
  48. Cystic Fibrosis
  49. Cystinosis
  50. DiGeorge Syndrome
  51. Down Syndrome
  52. Dubowitz Syndrome
  53. Dwarfism
  54. Ectodermal Dysplasia
  55. Ehlers+Danlos Syndrome
  56. Ellis+van Creveld Syndrome
  57. Epidermolysis Bullosa
  58. Factor V Leiden
  59. Familial Adenomatous Polyposis
  60. Familial Dysautonomia
  61. Familial Erythromelalgia
  62. Familial Hypercholesterolemia
  63. Familial Mediterranean Fever
  1. Fanconi Anemia
  2. Fatty Oxidation
  3. Floating+Harbor Syndrome
  4. Fragile X Syndrome
  5. Freeman+Sheldon Syndrome
  6. Friedreich Ataxia
  7. Fuchs' Dystrophy
  8. Galactosemia
  9. Gaucher's
  10. Gilbert's Syndrome
  11. Glutaricaciduria
  12. Glycogen Storage Disease Type II
  13. GRACILE Syndrome
  14. Hailey-Hailey Disease
  15. Hallervorden+Spatz Syndrome
  16. Hemihypertrophy
  17. Hemochromatosis
  18. Hemophilia
  19. Hereditary Angioedema
  20. Hereditary Spastic Paraplegia
  21. Homocystinuria
  22. Huntington's
  23. Hydrocephalus
  24. Hydrolethalus Syndrome
  25. Imerslund+Grasbeck Syndrome
  26. Incontinentia Pigmenti
  27. Jacobsen Syndrome
  28. Joubert Syndrome
  29. Klinefelter Syndrome
  30. Klippel Feil Syndrome
  31. Langer+Giedion Syndrome
  32. Larsen Syndrome 
  33. Laurence+Moon Syndrome
  34. Leber's Congenital Amaurosis
  35. Leigh's
  36. Lesch+Nyhan Syndrome
  37. Leukodystrophy
  38. Lissencephaly
  39. Loeys+Dietz Syndrome
  40. Lowe Syndrome
  41. Lymphedema
  42. Lysinuric Protein Intolerance
  43. Machado+Joseph
  44. Mannosidosis
  45. Maple Syrup Urine Disease
  46. Marfan Syndrome
  47. MCAD
  48. McArdle's
  49. MEB Disease
  50. Meckel-Gruber Syndrome
  51. Menkes' Syndrome
  52. Mobius Syndrome
  53. Mucolipidosis
  54. Mucolipidosis Type IV
  55. Mulibrey Nanism
  56. Multiple Hereditary Exostoses
  57. Muscular Dystrophies
  58. Myotonic Dystrophy
  59. Nail Patella Syndrome
  60. Narcolepsy
  61. Nasu-Hakola Disease
  62. Neurofibromatosis
  63. Niemann+Pick
  1. Noonan Syndrome
  2. Opitz Syndrome
  3. Oral+facial+digital Syndrome
  4. Osteogenesis Imperfecta
  5. Osteopetrosis
  6. Pallister Killian Mosaic Syndrome
  7. Pallister-Hall Syndrome
  8. PEHO Syndrome
  9. Phenylketonuria
  10. Polycystic Kidney
  11. Popliteal Pterygium Syndrome
  12. Porphyrias
  13. Prader+Willi Syndrome
  14. Progeria
  15. Progeria
  16. Propionic Acidemia
  17. Proteus Syndrome
  18. Prune Belly Syndrome
  19. Pseudoxanthoma Elasticum
  20. Raine Syndrome
  21. RAPADILINO Syndrome
  22. Refsum's
  23. Retinoblastoma
  24. Retinoschisis
  25. Rett's Syndrome
  26. Robinow Syndrome
  27. Rubinstein+Taybi Syndrome
  28. Russell Silver Syndrome
  29. Sanfilippo Syndrome
  30. Schizencephaly
  31. Shwachman Syndrome
  32. Sickle Cell
  33. Smith Lemli Opitz Syndrome
  34. Smith+Magenis Syndrome
  35. Sotos Syndrome
  36. Spinal Muscular Atrophy
  37. Stickler's Syndrome
  38. Sturge-Weber Syndrome
  39. Tay+Sachs
  40. Thalassemia
  41. Thrombocytopenia Absent Radius Syndrome
  42. Tourette Syndrome
  43. Treacher Collins Syndrome
  44. Trichothiodystrophy
  45. Triploidy
  46. Tuberous Sclerosis
  47. Turner Syndrome
  48. Tyrosinemia
  49. Unverricht+Lundborg Disease
  50. Urea Cycle Disorders
  51. Usher Syndrome
  52. VACTERL Association
  53. VATER Syndrome
  54. Velo+Cardio+Facial Syndrome
  55. Von Hippel-Lindau
  56. Waardenburg Syndrome
  57. WAGR Syndrome
  58. Weaver Syndrome
  59. Williams Syndrome
  60. Wilson's Disease
  61. Wolf-Hirschhorn Syndrome
  62. Xeroderma Pigmentosum
  63. Zellweger Syndrome

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