| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Fragil X-syndrom | 100 | + | |
| 2 | Retts syndrom | 74 | + | |
| 3 | Coffin-Lowrys syndrom | 52 | + | |
| 4 | Adrenoleukodystrofi | 46 | + | |
| 5 | Lesch-Nyhans syndrom | 36 | + | |
| 6 | Glykogenupplagringssjukdom typ IIb | 30 | + | |
| 7 | Klassiska lissencefalier och bandheterotopier | 24 | + | |
| 8 | Mukopolysackaridos II | 19 | + | |
| 9 | Pyruvatdehydrogenasbrist | 10 | + | |
| 10 | Menkes Kinky hair-syndrom | 8 | + |