| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Branchio-Oto-Renal Syndrome | 100 | + + | |
| 2 | Waardenburg Syndrome | 78 | + + | |
| 3 | Ectodermal Dysplasia | 2 | + + | |
| 4 | 22q11 Deletion Syndrome | 2 | + + | |
| 5 | Beckwith-Wiedemann Syndrome | 2 | + + | |
| 6 | Marfan Syndrome | 2 | + + | |
| 7 | Carney Complex | 2 | + + | |
| 8 | Down Syndrome | 2 | + + | |
| 9 | Holoprosencephaly | 2 | + + | |
| 10 | Cri-du-Chat Syndrome | 1 | + + | |
| 11 | Orofaciodigital Syndromes | 1 | + + |