Goldberg-shprintzen megacolon syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Goldberg-Shprintzen megacolon syndrome | 66629, C1836123 | KIFBP | Causal Pathogenic evidence from ClinVar | 7338549, 15883926, 23427148, 28277559 | ClinVar |