| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Lesch-Nyhans syndrom | 100 | + | |
| 2 | Retts syndrom | 63 | + | |
| 3 | Pyruvatdehydrogenasbrist | 53 | + | |
| 4 | Klassiska lissencefalier och bandheterotopier | 49 | + | |
| 5 | Mukopolysackaridos II | 39 | + | |
| 6 | Glykogenupplagringssjukdom typ IIb | 39 | + | |
| 7 | Menkes Kinky hair-syndrom | 29 | + | |
| 8 | Adrenoleukodystrofi | 29 | + | |
| 9 | Fragil X-syndrom | 23 | + |