| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | 22q11 Deletion Syndrome | 100 | + + | |
| 2 | CHARGE Syndrome | 29 | + + | |
| 3 | Prune Belly Syndrome | 27 | + + | |
| 4 | Down Syndrome | 26 | + + | |
| 5 | Ectodermal Dysplasia | 25 | + + | |
| 6 | Marfan Syndrome | 15 | + + | |
| 7 | Bardet-Biedl Syndrome | 12 | + + | |
| 8 | Holoprosencephaly | 12 | + + | |
| 9 | Laurence-Moon Syndrome | 9 | + + | |
| 10 | Pallister-Hall Syndrome | 9 | + + | |
| 11 | Alagille Syndrome | 8 | + + | |
| 12 | Heterotaxy Syndrome | 7 | + + | |
| 13 | Orofaciodigital Syndromes | 7 | + + | |
| 14 | Waardenburg Syndrome | 6 | + + | |
| 15 | Isolated Noncompaction of the Ventricular Myocardium | 1 | + + | |
| 16 | Loeys-Dietz Syndrome | 1 | + + |