| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Rett Syndrome | 100 | + + | |
| 2 | Hereditary Sensory and Motor Neuropathy | 37 | + + | |
| 3 | Neurofibromatoses | 18 | + + | |
| 4 | Spinal Muscular Atrophies of Childhood | 17 | + + | |
| 5 | Myotonic Dystrophy | 14 | + + | |
| 6 | Hepatolenticular Degeneration | 10 | + + | |
| 7 | Myotonia Congenita | 9 | + + | |
| 8 | Hereditary Sensory and Autonomic Neuropathies | 8 | + + | |
| 9 | Lesch-Nyhan Syndrome | 8 | + + | |
| 10 | Tuberous Sclerosis | 4 | + + |