| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Könskromosomrubbningar | 100 | + | |
| 2 | Beckwith-Wiedemanns syndrom | 45 | + | |
| 3 | Downs syndrom | 39 | + | |
| 4 | 22q11 Deletion Syndrome | 37 | + | |
| 5 | Kattjam-syndromet | 26 | + | |
| 6 | Prader-Willis syndrom | 25 | + | |
| 7 | Williams syndrom | 23 | + | |
| 8 | Holoprosencefali | 22 | + | |
| 9 | Silver-Russell Syndrome | 20 | + | |
| 10 | Brankio-oto-renalsyndrom | 18 | + | |
| 11 | Angelmans syndrom | 14 | + | |
| 12 | De Langes syndrom | 8 | + |