| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Sex Chromosome Disorders | 100 | + + | |
| 2 | 22q11 Deletion Syndrome | 66 | + + | |
| 3 | Holoprosencephaly | 55 | + + | |
| 4 | Beckwith-Wiedemann Syndrome | 29 | + + | |
| 5 | Branchio-Oto-Renal Syndrome | 10 | + + | |
| 6 | Rubinstein-Taybi Syndrome | 3 | + + | |
| 7 | De Lange Syndrome | 1 | + + |