The following guidelines are being prepared at the moment: 
 

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