Die folgenden Handlungsempfehlungen befinden sich derzeit in Arbeit: 
 

1. Alagille syndrome
2. Behçet's disease
3. Bloom syndrome
4. Blue Rubber Bleb Nevus Syndrome
5. Cri du Chat syndrome
6. Gaucher disease
7. Giant Axonal Neuropathy
8. Niemann Pick type C
9. Ornithine transcarbamylase deficiency
10. Poliomyelitis
11. Preeclampsia
12. Smith Lemli Opitz syndrome
13. Weaver syndrome
14. Spina Bifida
15. Williams-Beuren-Syndrom
16. Gorlin-Goltz syndrome
17. Hypopituitarism
18. CDH 
19. Donohoe syndrome
20. Wolf-Hirschhorn syndrome
21. Situs Inversus Totalis
22. Lujan-Fryns syndrome
23. Schwartz-Jample syndrome
24. Hutchinson-Gilford progeria syndrome
25. Guillain-Barré  syndrome
26. Murray Puretic syndrome
27. ATRX syndrome
28. Kartagener syndrome
29. Scimitar syndrome
30. Leprosy
31. Michels syndrome
32. Primary biliary cirrhosis
33. Xeroderma pigmentosum
34. Congenital Cataract Facial Dysmorphism neuropathy (CCFDN) syndrome
35. Freeman-Sheldon syndrome
36. Fucosidosis
37. Hamamy syndrome
38. Juvenile idiopathic arthritis
39. Loeys-Dietz syndrome
40. Shwachman–Diamond Syndrome
41. Lujan-Fryns syndrome
42. De-Barsy syndrome
43. GSD V - McArdle disease 
44. Kleefstra syndrome
45. Phelan McDermid syndrome
46. Congenital pulmonary airway malformation
47. Insulinoma
48. Poland syndrome
49. Poliomyletis
50. Gordon syndrome
51. Allgrove syndrome
52. Marcus Gunn syndrome
53. Kennedys' disease
54. Alport syndrome
55. Citrullinemia
56. Nelsons' syndrome

Folgende Handlungsempfehlungen sind derzeit in Arbeit: 
 

1. Alagille syndrome
2. Behçet's disease
3. Bloom syndrome
4. Blue Rubber Bleb Nevus Syndrome
5. Cri du Chat syndrome
6. Gaucher disease
7. Giant Axonal Neuropathy
8. Niemann Pick type C
9. Ornithine transcarbamylase deficiency
10. Poliomyelitis
11. Preeclampsia
12. Smith Lemli Opitz syndrome
13. Weaver syndrome
14. Spina Bifida
15. Williams-Beuren-Syndrom
16. Gorlin-Goltz syndrome
17. Hypopituitarism
18. CDH 
19. Donohoe syndrome
20. Wolf-Hirschhorn syndrome
21. Situs Inversus Totalis
22. Lujan-Fryns syndrome
23. Schwartz-Jample syndrome
24. Hutchinson-Gilford progeria syndrome
25. Guillain-Barré  syndrome
26. Murray Puretic syndrome
27. ATRX syndrome
28. Kartagener syndrome
29. amniotic band syndrome
30. Scimitar syndrome
31. Leprosy
32. Michels syndrome
33. Primary biliary cirrhosis
34. Xeroderma pigmentosum
35. Congenital Cataract Facial Dysmorphism neuropathy (CCFDN) syndrome
36. Edwards syndrome
37. Freeman-Sheldon syndrome
38. Fucosidosis
39. Hamamy syndrome
40. Juvenile idiopathic arthritis
41. Loeys-Dietz syndrome
42. Shwachman–Diamond Syndrome
43. Lujan-Fryns syndrome
44. De-Barsy syndrome
45. GSD V - McArdle disease 
46. Kleefstra syndrome
47. Phelan McDermid syndrome