Folgende Handlungsempfehlungen sind derzeit in Arbeit:

1. Alport syndrome
2. Anderson disease
3. Beals syndrome
4. Giant Axonal Neuropathy
5. Distal arthrogryposis type 1, type 3
6. Freeman-Burian (Freeman-Sheldon) syndrome
7. Dubowitz syndrome
8. Infantile neuroaxonal dystrophy
9. Kennendy's disease
10. Lujan-Fryns syndrome
11. Nager syndrome
12. MYH9-related disease
13. Pierre Robin syndrome
14. Poliomyelitis
15. Preeclampsia
16. Rubinstein-Taybi syndrome
17. Scimitar syndrome
18. Sheldon-Hall syndrome
19. Situs inversus totalis
20. Strumpell Lorrain syndrome
21. Tuberous sclerosis
22. Walker-Warburg syndrome
23. Williams syndrome
24. Wolf-Hirschhorn syndrome
25. Xeroderme Pigmentosum