Carpenter syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Acrocephalopolysyndactyly type 2 | C1275078 | MEGF8 | Causal Pathogenic evidence from ClinVar | 23063620 | ClinVar |
| RAB23 | Causal Pathogenic evidence from ClinVar | 17503333, 20358613, 21412941, 24458945 | ClinVar | ||
| Carpenter syndrome | 65759 | MEGF8 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| RAB23 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| CARPENTER SYNDROME 1 | C4551510 | MEGF8 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| RAB23 | Causal Pathogenic evidence from ClinVar | 17503333, 20358613, 21412941, 23599695 | ClinVar | ||
| CARPENTER SYNDROME 2 | C3554247 | MEGF8 | Causal Pathogenic evidence from ClinVar | 23063620 | ClinVar |