| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Nail-Patella Syndrome | 100 | + + | |
| 2 | Down Syndrome | 57 | + + | |
| 3 | Marfan Syndrome | 57 | + + | |
| 4 | Rubella Syndrome, Congenital | 37 | + + | |
| 5 | Prader-Willi Syndrome | 18 | + + | |
| 6 | Ectodermal Dysplasia | 15 | + + | |
| 7 | De Lange Syndrome | 14 | + + | |
| 8 | Smith-Lemli-Opitz Syndrome | 12 | + + | |
| 9 | 22q11 Deletion Syndrome | 9 | + + | |
| 10 | Cockayne Syndrome | 9 | + + | |
| 11 | Holoprosencephaly | 7 | + + |