| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Holoprosencephaly | 100 | + + | |
| 2 | Cri-du-Chat Syndrome | 54 | + + | |
| 3 | Sex Chromosome Disorders | 48 | + + | |
| 4 | Sotos Syndrome | 41 | + + | |
| 5 | Rubinstein-Taybi Syndrome | 40 | + + | |
| 6 | Angelman Syndrome | 36 | + + | |
| 7 | Wolf-Hirschhorn Syndrome | 22 | + + | |
| 8 | Down Syndrome | 13 | + + |