The following recommendations are being prepared at the moment:

1. Anderson disease
2. Aromatic l-amino acid decarboxylase deficiency
3. Beals syndrome
4. Giant Axonal Neuropathy
5. Citrullinemia
6. Congenital pulmonary airway malformation
7. Distal arthrogryposis type 1, type 3
8. Dubowitz syndrome
9. Fabry/ Anderson Fabry syndrome
10. Fucosidosis
11. Giant Axonal Neuropathy
12. Hamamy syndrome
13. Infantile neuroaxonal dystrophy
14. Kennendy's disease
15. Kleefstra syndrome
16. Lujan-Fryns syndrome
17. Michels syndrome / 3MC-Syndrome
18. Multiple myeloma
19. MYH9-related disease
20. Nager syndrome
21. Ornithine transcarbamylase deficiency
22. Phelan McDermid Syndrome
23. Pierre Robin syndrome
24. Poliomyelitis
25. Scimitar syndrome
26. Sheldon-Hall syndrome
27. Situs inversus totalis
28. Strumpell Lorrain syndrome
29. Tuberous sclerosis
30. Williams syndrome
31. Wolf-Hirschhorn syndrome
32. Xeroderme Pigmentosum