| Malattie | Valutazione | Bibliogr. | Precisare | |
|---|---|---|---|---|
| 1 | Displasia Ectodermica | 100 | + | |
| 2 | Sindrome Di Prader-Willi | 53 | + | |
| 3 | Sindrome Di Marfan | 46 | + | |
| 4 | 22q11 Deletion Syndrome | 25 | + | |
| 5 | CHARGE Syndrome | 14 | + | |
| 6 | Sindrome Down | 12 | + | |
| 7 | Sindrome Di Gardner | 11 | + | |
| 8 | Sindrome Di Beckwith-Wiedemann | 10 | + | |
| 9 | Isolated Noncompaction of the Ventricular Myocardium | 8 | + | |
| 10 | Nevus, Sebaceous of Jadassohn | 7 | + | |
| 11 | Sindrome Leopard | 7 | + | |
| 12 | Sindrome Poems | 6 | + |