| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Könskromosomrubbningar | 100 | + | |
| 2 | Holoprosencefali | 77 | + | |
| 3 | 22q11 Deletion Syndrome | 59 | + | |
| 4 | Downs syndrom | 33 | + | |
| 5 | Brankio-oto-renalsyndrom | 28 | + | |
| 6 | Rubinstein-Taybis syndrom | 28 | + | |
| 7 | Beckwith-Wiedemanns syndrom | 19 | + | |
| 8 | De Langes syndrom | 18 | + | |
| 9 | WAGR-syndrom | 13 | + | |
| 10 | Kattjam-syndromet | 11 | + | |
| 11 | Williams syndrom | 10 | + | |
| 12 | Angelmans syndrom | 7 | + |