Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | 486815 | TRIP4 | Causal Pathogenic evidence from ClinVar | - | ClinVar |