Folgende Handlungsempfehlungen sind derzeit in Arbeit:

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