| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Myotonic Dystrophy | 100 | + + | |
| 2 | Tuberous Sclerosis | 74 | + + | |
| 3 | Neurofibromatoses | 44 | + + | |
| 4 | Hepatolenticular Degeneration | 40 | + + | |
| 5 | Mental Retardation, X-Linked | 35 | + + | |
| 6 | Spinal Muscular Atrophies of Childhood | 24 | + + | |
| 7 | Myotonia Congenita | 19 | + + | |
| 8 | Huntington Disease | 19 | + + | |
| 9 | Optic Atrophies, Hereditary | 19 | + + | |
| 10 | Lesch-Nyhan Syndrome | 14 | + + | |
| 11 | Dystonia Musculorum Deformans | 14 | + + | |
| 12 | Hereditary Sensory and Autonomic Neuropathies | 14 | + + | |
| 13 | Neuronal Ceroid-Lipofuscinoses | 10 | + + |