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2009. 7. 30.

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[º°Ã·] ¹è¾Æ ¶Ç´Â žƸ¦ ´ë»óÀ¸·Î À¯ÀüÀڰ˻縦 ÇÒ ¼ö ÀÖ´Â À¯ÀüÁúȯ
1. ½ÃÅõ·ê¸°Ç÷Áõ(Citrullinemia)
2. Å©¸®±Û·¯-³ªÀÚ¸£ÁõÈıº(Crigler-Najjar syndrome)
3. °¥¶ôÅ佺Ç÷Áõ(Galactosemia)
4. ±Û·çŸ¸¯»êÇ÷Áõ(Glutaric acidemia)
5. ´ç¿øÃàÀûº´(Glycogen storage disease)
6. ÀúÀλêÈ¿¼ÒÁõ(Hypophosphatasia)
7. Àå¼â¼ö»êÈ­ acyl-CoA Å»¼ö¼ÒÈ¿¼Ò °áÇÌÁõ(Long chain 3-hydroxy
acyl-CoA dehydrogenase deficiency)
8. ´Üdz´ç¹Ð´¢º´(Maple syrup urine disease)
9. ¸àÄɽº ÁõÈıº(Menkes syndrome)
10. ºñÄÉÅ漺 °í±Û¸®½ÅÇ÷Áõ(Nonketotic hyperglycinemia)
11. Áö¼Ó¼º °íÀν¶¸°Ç÷Áõ¿¡ ÀÇÇÑ ¿µ¾Æ±â ÀúÇ÷´çÁõ(Persistent hyperinsulinemic hypoglycemia of infancy)
12. ÁßÁõ º¹ÇÕ ¸é¿ª°áÇÌ Àå¾Ö(Severe combined immunodeficiency disorder)
13. ¿ù¸¸º´(Wolman disease)
14. Á©¿þ°Å ÁõÈıº(Zellweger peroxisome syndrome)
15. ¸ð¼¼Ç÷°üÈ®À强 ¿îµ¿½ÇÁ¶(Ataxia telangiectasia)
16. Á¡¾×´Ù´çÁúÁõ(Mucopolysaccharidosis)
17. °ñÈ­¼®Áõ(Osteopetrosis)
18. ·¹Æ® ÁõÈıº(Rett syndrome)
19. °ñ¿¬°ñÁ¾Áõ(Osteochondroma)
20. Á¡»ó¿¬°ñ ÀÌÇü¼ºÁõ(Rhizomelic chondrodysplasia punctata)
21. ¹é»öÁõ(Albinism)
22. ¾Ë¶óÁú ÁõÈıº(Alagille syndrome)
23. À¯Àü¼º °ú´çºÒ³»Áõ(Hereditary fructose intolerance ¶Ç´Â Aldolase A deficiency)
24. ¾ËÆÄ-ÁöÁßÇغóÇ÷(¥á-thalassemia)
25. Ä«³ª¹Ýº´(Canavan disease)
26. ¼¼·ÎÀÌµå ¸®Æ÷Ǫ½ÅÁõ(Ceroid lipofuscinosis ¶Ç´Â Batten disease)
27. ¼±Ãµ¼º ´çÈ­ºÎÀü(Congenital disorder of glycosylation)
28. Áֱ⼺ È£Áß±¸ °¨¼ÒÁõ(Cosman-cyclic neutropenia)
29. ½Ã½ºÆ¾ÃàÀûÁõ(Cystinosis)
30. µ¥´Ï½º-µå·¡½¬ ÁõÈıº(Denys-Drash syndrome)
31. GM1 °­±Û¸®¿À»çÀ̵åÁõ(GM1 gangliosidosis)
32. ÇÒ·¯Æ÷¸£ÅÙ-½ºÆÄÃ÷º´(Hallervorden-Spatz disease)
33. ¼öµÎÁõ(Hydrocephalus : X-linked L1CAM)
34. ¼±Ãµ¼º ¸é¿ª°áÇÌÁõ(Hyper IgM syndrome)
35. ¹ÂÄÚ¸®ÇǵåÁõ ¥³(Mucolipidosis ¥³)
36. NEMO ¸é¿ª°á¿©(NEMO immunodeficiency)
37. ÇãÆÄ°íÇ÷¾Ð(Pulmonary hypertension)
38. ¾×ƾ-³×¸»¸° ±ÙÀ°º´Áõ(Actin-Nemaline myopathy)
39. ¾ËÆÄ-1 Ç×Æ®¸³½Å °áÇÌÁõ(Alpha-1 antitrypsin deficiency)
40. ¾Æµ¿±â Àú¼öÃÊÇü¼º ¿îµ¿½ÇÁ¶(Childhood ataxia with central nervous system hypomyelination)
41. ¼±Ãµ¼º ÇɶõµåÇü ½ÅÀåÁõ(Congenital Finnish nephrosis)
42. ¾ÆÆ丣 ÁõÈıº(Apert syndrome)
43. ¸Æ¶ô¸· °á¼Õ(Choroideremia)
44. ¼â°ñµÎ°³°ñ Çü¼ºÀÌ»ó(Cleidocranial dysplasia)
45. ÄÚÄÉÀÎ ÁõÈıº(Cockayne syndrome)
46. ¼±Ãµ¼º Á¶Ç÷±â¼º Æ÷¸£ÇǸ°Áõ(Congenital erythropoietic porphyria)
47. µ¥½º¹Î ÃàÀû ±ÙÀ°º´Áõ(Desmin storage myopathy)
48. Ç¥Çǹڸ® °¢È­´Ù°úÁõ(Epidermolytic hyperkeratosis)
49. ÇÁ¸®µå¶óÀÌÈ÷ ¿îµ¿½ÇÁ¶(Friedreich¡¯s ataxia)
50. ±Û¸®½Å ³úº´Áõ(Glycine encephalopathy)
51. À¯Àü¼º ÃâÇ÷¼º ¸ð¼¼Ç÷°üÈ®Àå(Hereditary hemmorrhagic telangiectasia)
52. Ç÷±¸Å½½Ä¼º ¸²ÇÁÁ¶Á÷±¸Áõ(Hemophagocytic lymphohistiocytosis)
53. ·¹º£¸£ ¼±Ãµ¼º Èæ¾Ï½Ã(Leber retinal congenital amaurosis)
54. º£½ºÆ®º´(Best disease ¶Ç´Â Vitelliform macular dystrophy)
55. ´©³­ ÁõÈıº(Noonan syndrome)
56. ³ë¸®º´(Norrie disease)
57. ´«․ÄÚ․Ä¡¾Æ․°ñ°Ý ÀÌÇü¼ºÁõ(Oculodentodigital dysplasia)
58. ½Ã½Å°æ À§Ãà(Optic atrophy 1)
59. ¹éÁú À̼ÒÁõ(Periventricular heterotopia)
60. ÆÄÀÌÆÛ ÁõÈıº(Pfeiffer syndrome)
61. õ°ñ¹«Çü¼ºÁõ(Sacral agenesis syndrome ¶Ç´Â Currarino syndrome)
62. ½º¹Ì½º-·½¸®-¿ÀÇÇÂê ÁõÈıº(Smith-Lemli-Opitz syndrome)
63. ¼±Ãµ¼º ôÃß»À³¡ Çü¼ºÀÌ»ó(Spindylo-epiphyseal dysplasia congenita)
64. Æ®·¹Ã³ Äݸ°½º ÁõÈıº(Treacher Collins syndrome)
65. ¹Ù¸£µ§ºÎ¸£Å© ÁõÈıº(Waardenburg syndrome)
66. À¯Àü¼º Ç÷°üºÎÁ¾(Hereditary angioedema)
67. À¯Àü¼º û°¢Àå¾Ö(Hereditary deafness)
68. ºí·¢ÆÇ-´ÙÀ̾Ƹóµå ÁõÈıº(Blackfan-Diamond syndrome)
69. ÀúÄ®·ý¼º Áֱ⼺ ¸¶ºñ(Hypokalemic periodic paralysis)
70. X-¿¬°ü ¾î¸°¼±: ½ºÅ×·ÎÀÌµå ¼³ÆÄŸÁ¦ °áÇÌÁõ(X-linked ichthyosis: Steroid sulfatase deficiency)
71. ¼±Ãµ¼º ¾î¸°¼±(Congenital harlequin ichthyosis)
72. À¯Àü¼º ¸²ÇÁºÎÁ¾(Hereditary lymphedema)
73. ¼±Ãµ¼º ¼Õ¹ßÅé ºñ´ëÁõ(Pachyonychia congenita)
74. °¡¼º ºÎ°©»ó»ù ±â´ÉÀúÇÏÁõ(Pseudohypoparathyroidism)
75. ¹ë¶ó-Á¦·Ñµå ÁõÈıº(Baller-Gerold syndrome ¶Ç´Â Saethre-Chotzen syndrome)
76. ¿þ½ºÆ® ÁõÈıº(West syndrome)
2009-139È£.hwp