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. Giant Axonal Neuropathy
11. Hamamy syndrome
12. Infantile neuroaxonal dystrophy
13. Kennendy's disease
14. Kleefstra syndrome
15. Lujan-Fryns syndrome
16. Michels syndrome / 3MC-Syndrome
17. Multiple myeloma
18. MYH9-related disease
19. Nager syndrome
20. Ornithine transcarbamylase deficiency
21. Phelan McDermid Syndrome
22. Pierre Robin syndrome
23. Poliomyelitis
24. Sheldon-Hall syndrome
25. Situs inversus totalis
26. Strumpell Lorrain syndrome
27. Tuberous sclerosis
28. Williams syndrome
29. Wolf-Hirschhorn syndrome
30. Xeroderme Pigmentosum