BOLI RARE
1. AC – trisomie 21 (sindrom Down0)
2. AC – trisomie 13 (sindrom Patau)
3. AC – trisomie 18 (sindrom Edwards)
4. AC – anomalii ale cromozomului X
5. AC – anomalii ale cromozomului Y
6. AC – sindrom Lejeune (cri du chat)
7. AC – sindrom Wolf Hirschhorn
8. AC – sindrom Prader Willi
9. AC – sindrom Angelman
10. AC – sindrom Williams
11. AC – sindrom Rubinstein Taybi
12. AC – sindrom DiGeorge – velocardiofacial
13. AC – retinoblastom
14. AC – nefroblastom
15. AC – sindrom Beckwith Wiedemann
16. AC – alteanomalii cromozomiale
17. G – osteogeneza imperfecta
18. G – boala Pompe
19. G – boalaGaucher
20. G – boalaFabry
21. G – tirozinemie
22. G – mucopolizaharidoza tip II (sindromul Hunter)
23. G – mucopolizaharidoza tip I (sindromul Hurler)
24. G – afibrinogenemie congenitala
25. G – sindrom de imunodeficienta primara
26. G – epidermoliza buloasa
27. G – fenilcetonuriesau deficit de tetrahidrobiopterina (BH4)
28. G – sclerozatuberoasa
29. G – sclerozalateralaamiotrofica
30. G-mucoviscidoza
31. G – distrofie musculara Duchenne si Becker
32. G – angioedemereditar
33. G – neuropatie optica ereditara Leber
34. G – thalassemia
35. G – boala Wilson
36. G – sindromMarfan
37. G – hemofilie
38. G – sindrom Niemann Pick
39. G – sindromRett
40. G – sindrom Noonan-rasopatie
41. G – neurofibromatoza
42. G – boala Huntington
43. G – alte boli genetice
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Alba Iulia, Bulevardul Revoluției 1989, nr. 23
@Direcția de Sănătate Publică Alba 2019
@2020