Spinal muscular atrophy with congenital bone fractures
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 | C4225177 | TRIP4 | 27008887, 26924529 |
| SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 | C4225176 | ASCC1 | 28749478 |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures | 486811 | ASCC1 | |
| TRIP4 |