| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Sex Chromosome Disorders | 100 | + + | |
| 2 | Down Syndrome | 61 | + + | |
| 3 | Beckwith-Wiedemann Syndrome | 20 | + + | |
| 4 | Holoprosencephaly | 17 | + + | |
| 5 | De Lange Syndrome | 16 | + + | |
| 6 | 22q11 Deletion Syndrome | 4 | + + | |
| 7 | Prader-Willi Syndrome | 2 | + + | |
| 8 | Cri-du-Chat Syndrome | 2 | + + |