| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | 22q11 Deletion Syndrome | 100 | + + | |
| 2 | Prader-Willi Syndrome | 76 | + + | |
| 3 | Down Syndrome | 65 | + + | |
| 4 | Angelman Syndrome | 48 | + + | |
| 5 | Cri-du-Chat Syndrome | 40 | + + | |
| 6 | Holoprosencephaly | 33 | + + | |
| 7 | Smith-Magenis Syndrome | 29 | + + | |
| 8 | Wolf-Hirschhorn Syndrome | 18 | + + | |
| 9 | Beckwith-Wiedemann Syndrome | 14 | + + | |
| 10 | Rubinstein-Taybi Syndrome | 11 | + + |