| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Prader-Willis syndrom | 100 | + | |
| 2 | Angelmans syndrom | 30 | + | |
| 3 | 22q11 Deletion Syndrome | 22 | + | |
| 4 | Kattjam-syndromet | 21 | + | |
| 5 | Downs syndrom | 18 | + | |
| 6 | Waardenburg Syndrome | 17 | + | |
| 7 | Basalcellsnevussyndrom | 16 | + | |
| 8 | Prune-belly syndrom | 15 | + | |
| 9 | Holoprosencefali | 13 | + | |
| 10 | Marfans syndrom | 11 | + |