| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Proteus Syndrome | 100 | + + | |
| 2 | Holoprosencephaly | 77 | + + | |
| 3 | Ectodermal Dysplasia | 62 | + + | |
| 4 | Costello Syndrome | 50 | + + | |
| 5 | Loeys-Dietz Syndrome | 50 | + + | |
| 6 | Branchio-Oto-Renal Syndrome | 40 | + + | |
| 7 | Sotos Syndrome | 35 | + + | |
| 8 | Rubinstein-Taybi Syndrome | 20 | + + | |
| 9 | Smith-Lemli-Opitz Syndrome | 18 | + + | |
| 10 | Marfan Syndrome | 16 | + + |