| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Psykisk utvecklingsstörning, X-bunden | 100 | + | |
| 2 | Retts syndrom | 10 | + | |
| 3 | Hereditary Sensory and Motor Neuropathy | 9 | + | |
| 4 | 8 | + | ||
| 5 | Lesch-Nyhans syndrom | 5 | + | |
| 6 | 4 | + | ||
| 7 | Tuberös skleros | 4 | + | |
| 8 | Cockaynes syndrom | 3 | + | |
| 9 | Spinocerebellär degeneration | 3 | + | |
| 10 | Neurofibromatoser | 1 | + | |
| 11 | Myotonisk dystrofi | 1 | + | |
| 12 | Tourettes syndrom | 1 | + | |
| 13 | Optikusatrofier, ärftliga | 1 | + | |
| 14 | Menkes Kinky hair-syndrom | 1 | + | |
| 15 | Canavans sjukdom | 1 | + |