| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | CHARGE Syndrome | 100 | + + | |
| 2 | Prune Belly Syndrome | 89 | + + | |
| 3 | Ectodermal Dysplasia | 85 | + + | |
| 4 | Down Syndrome | 82 | + + | |
| 5 | 22q11 Deletion Syndrome | 70 | + + | |
| 6 | Bardet-Biedl Syndrome | 42 | + + | |
| 7 | Holoprosencephaly | 40 | + + | |
| 8 | Laurence-Moon Syndrome | 32 | + + | |
| 9 | Pallister-Hall Syndrome | 31 | + + | |
| 10 | Alagille Syndrome | 23 | + + | |
| 11 | Orofaciodigital Syndromes | 23 | + + | |
| 12 | Heterotaxy Syndrome | 22 | + + | |
| 13 | Waardenburg Syndrome | 22 | + + |