| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Ectodermal Dysplasia | 100 | + + | |
| 2 | 22q11 Deletion Syndrome | 58 | + + | |
| 3 | Orofaciodigital Syndromes | 48 | + + | |
| 4 | Holoprosencephaly | 48 | + + | |
| 5 | Loeys-Dietz Syndrome | 40 | + + | |
| 6 | Beckwith-Wiedemann Syndrome | 25 | + + | |
| 7 | Smith-Lemli-Opitz Syndrome | 20 | + + | |
| 8 | Branchio-Oto-Renal Syndrome | 8 | + + | |
| 9 | Short Rib-Polydactyly Syndrome | 5 | + + | |
| 10 | Waardenburg Syndrome | 4 | + + | |
| 11 | Marfan Syndrome | 3 | + + | |
| 12 | Basal Cell Nevus Syndrome | 2 | + + | |
| 13 | Rubinstein-Taybi Syndrome | 2 | + + | |
| 14 | Mobius Syndrome | 2 | + + | |
| 15 | De Lange Syndrome | 1 | + + |