Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | C4748872 | PPP3CA | Causal Pathogenic evidence from ClinVar | 29432562 | ClinVar |
| Craniosynostosis-microretrognathia-severe intellectual disability syndrome | 565858 | PPP3CA | Causal Pathogenic evidence from ClinVar | - | ClinVar |