| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Sex Chromosome Disorders | 100 | + + | |
| 2 | 22q11 Deletion Syndrome | 46 | + + | |
| 3 | Prader-Willi Syndrome | 35 | + + | |
| 4 | Down Syndrome | 30 | + + | |
| 5 | Williams Syndrome | 23 | + + | |
| 6 | Angelman Syndrome | 22 | + + | |
| 7 | Cri-du-Chat Syndrome | 18 | + + | |
| 8 | Jacobsen Distal 11q Deletion Syndrome | 16 | + + | |
| 9 | Holoprosencephaly | 15 | + + | |
| 10 | Smith-Magenis Syndrome | 13 | + + | |
| 11 | WAGR Syndrome | 10 | + + | |
| 12 | Wolf-Hirschhorn Syndrome | 8 | + + | |
| 13 | Beckwith-Wiedemann Syndrome | 6 | + + | |
| 14 | Rubinstein-Taybi Syndrome | 5 | + + |