| Disease ID | Source | Name | Description |
| 617066 | OMIM | Muscular dystrophy, congenital, Davignon-Chauveau type (MDCDC) | An autosomal recessive, severe congenital muscular dystrophy characterized by neonatal onset of muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies show multi-minicores, caps and dystrophic lesions. The disease is caused by variants affecting the gene represented in this entry. |
| 616866 | OMIM | Spinal muscular atrophy with congenital bone fractures 1 (SMABF1) | An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. The disease is caused by variants affecting the gene represented in this entry. |