| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Costello Syndrome | 100 | + | |
| 2 | Ektodermal dysplasi | 76 | + | |
| 3 | Dövblindhet | 64 | + | |
| 4 | Downs syndrom | 52 | + | |
| 5 | Barth Syndrome | 51 | + | |
| 6 | Cockaynes syndrom | 43 | + | |
| 7 | Carney Complex | 40 | + | |
| 8 | Marfans syndrom | 31 | + | |
| 9 | Smith-Lemli-Opitz syndrom | 30 | + | |
| 10 | Okulocerebrorenalt syndrom | 30 | + | |
| 11 | Rubellapneumonit, medfödd | 27 | + | |
| 12 | Brankio-oto-renalsyndrom | 25 | + | |
| 13 | Holoprosencefali | 23 | + | |
| 14 | Nevus, Sebaceous of Jadassohn | 22 | + | |
| 15 | Wolframs syndrom | 20 | + | |
| 16 | Zellwegers syndrom | 19 | + | |
| 17 | Nagel-patella-syndrom | 18 | + | |
| 18 | Beckwith-Wiedemanns syndrom | 18 | + | |
| 19 | LEOPARD-syndrom | 15 | + | |
| 20 | Alagilles syndrom | 13 | + | |
| 21 | Orofaciodigitala syndrom | 11 | + | |
| 22 | Basalcellsnevussyndrom | 11 | + |