| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Dövblindhet | 100 | + | |
| 2 | Wolframs syndrom | 69 | + | |
| 3 | Waardenburg Syndrome | 63 | + | |
| 4 | LEOPARD-syndrom | 31 | + | |
| 5 | Rubellapneumonit, medfödd | 24 | + | |
| 6 | Trikotiodystrofisyndrom | 22 | + | |
| 7 | Brankio-oto-renalsyndrom | 17 | + | |
| 8 | Cockaynes syndrom | 15 | + | |
| 9 | Ektodermal dysplasi | 15 | + | |
| 10 | CHARGE Syndrome | 15 | + | |
| 11 | 22q11 Deletion Syndrome | 7 | + | |
| 12 | Marfans syndrom | 4 | + | |
| 13 | Prader-Willis syndrom | 2 | + | |
| 14 | Downs syndrom | 2 | + | |
| 15 | Isolated Noncompaction of the Ventricular Myocardium | 2 | + | |
| 16 | Gardners syndrom | 1 | + | |
| 17 | Holoprosencefali | 1 | + | |
| 18 | Heterotaxy Syndrome | 1 | + | |
| 19 | Zellwegers syndrom | 1 | + | |
| 20 | Beckwith-Wiedemanns syndrom | 1 | + |