| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Ectodermal Dysplasia | 100 | + + | |
| 2 | Holoprosencephaly | 41 | + + | |
| 3 | Orofaciodigital Syndromes | 26 | + + | |
| 4 | Branchio-Oto-Renal Syndrome | 20 | + + | |
| 5 | Mobius Syndrome | 19 | + + | |
| 6 | Short Rib-Polydactyly Syndrome | 8 | + + | |
| 7 | Waardenburg Syndrome | 6 | + + | |
| 8 | Down Syndrome | 5 | + + | |
| 9 | 22q11 Deletion Syndrome | 5 | + + |