| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | 22q11 Deletion Syndrome | 100 | + + | |
| 2 | WAGR Syndrome | 7 | + + | |
| 3 | Jacobsen Distal 11q Deletion Syndrome | 6 | + + | |
| 4 | Cri-du-Chat Syndrome | 4 | + + | |
| 5 | Prader-Willi Syndrome | 3 | + + | |
| 6 | Sex Chromosome Disorders | 2 | + + | |
| 7 | Angelman Syndrome | 1 | + + | |
| 8 | Williams Syndrome | 1 | + + |