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