Cerebrofacioarticular syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cerebrofacioarticular syndrome | 314679 | DCHS1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| FAT4 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| VAN MALDERGEM SYNDROME 1 | C4551950 | DCHS1 | Causal Pathogenic evidence from ClinVar | 24056717 | ClinVar |
| Van Maldergem Wetzburger Verloes syndrome | C1832390 | DCHS1 | Causal Pathogenic evidence from ClinVar | 24056717 | ClinVar |
| FAT4 | Causal Pathogenic evidence from ClinVar | 24056717 | ClinVar | ||
| VAN MALDERGEM SYNDROME 2 | C3809875 | FAT4 | Causal Pathogenic evidence from ClinVar | 24056717, 24913602 | ClinVar |