| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Holoprosencefali | 100 | + | |
| 2 | 22q11 Deletion Syndrome | 78 | + | |
| 3 | Könskromosomrubbningar | 57 | + | |
| 4 | Downs syndrom | 22 | + | |
| 5 | Brankio-oto-renalsyndrom | 14 | + | |
| 6 | Rubinstein-Taybis syndrom | 13 | + | |
| 7 | De Langes syndrom | 13 | + | |
| 8 | Beckwith-Wiedemanns syndrom | 9 | + | |
| 9 | WAGR-syndrom | 6 | + | |
| 10 | Kattjam-syndromet | 5 | + | |
| 11 | Williams syndrom | 4 | + | |
| 12 | Angelmans syndrom | 4 | + |