| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Bloom Syndrome | 100 | + + | |
| 2 | Ectodermal Dysplasia | 56 | + + | |
| 3 | Waardenburg Syndrome | 56 | + + | |
| 4 | Barth Syndrome | 50 | + + | |
| 5 | Branchio-Oto-Renal Syndrome | 44 | + + | |
| 6 | Incontinentia Pigmenti | 40 | + + | |
| 7 | Proteus Syndrome | 36 | + + | |
| 8 | Down Syndrome | 35 | + + | |
| 9 | POEMS Syndrome | 29 | + + |