Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 487796 | CDC42 | Causal Pathogenic evidence from ClinVar | - | ClinVar |