| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Spinocerebellär degeneration | 100 | + | |
| 2 | Psykisk utvecklingsstörning, X-bunden | 46 | + | |
| 3 | Huntingtons sjukdom | 35 | + | |
| 4 | 32 | + | ||
| 5 | Hereditary Sensory and Motor Neuropathy | 26 | + | |
| 6 | Optikusatrofier, ärftliga | 24 | + | |
| 7 | Neuronal ceroidlipofuscinoses | 24 | + | |
| 8 | Neuroakantocytos | 21 | + | |
| 9 | Menkes Kinky hair-syndrom | 19 | + | |
| 10 | Canavans sjukdom | 14 | + | |
| 11 | Pantotenatkinas-associerad neurodegeneration | 14 | + | |
| 12 | Retts syndrom | 9 | + | |
| 13 | Alexanders sjukdom | 8 | + | |
| 14 | Cockaynes syndrom | 4 | + |