| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Sex Chromosome Disorders | 100 | + + | |
| 2 | Branchio-Oto-Renal Syndrome | 78 | + + | |
| 3 | Down Syndrome | 36 | + + | |
| 4 | Prader-Willi Syndrome | 31 | + + | |
| 5 | Holoprosencephaly | 26 | + + | |
| 6 | Rubinstein-Taybi Syndrome | 24 | + + | |
| 7 | WAGR Syndrome | 21 | + + | |
| 8 | 22q11 Deletion Syndrome | 18 | + + |