| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Dövblindhet | 100 | + | |
| 2 | Waardenburg Syndrome | 52 | + | |
| 3 | Brankio-oto-renalsyndrom | 48 | + | |
| 4 | Ektodermal dysplasi | 36 | + | |
| 5 | Alstrom Syndrome | 34 | + | |
| 6 | Wolframs syndrom | 26 | + | |
| 7 | Cockaynes syndrom | 19 | + | |
| 8 | Beckwith-Wiedemanns syndrom | 16 | + | |
| 9 | Orofaciodigitala syndrom | 15 | + | |
| 10 | CHARGE Syndrome | 15 | + | |
| 11 | 22q11 Deletion Syndrome | 8 | + | |
| 12 | Downs syndrom | 2 | + |