Kaufman oculocerebrofacial syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Kaufman oculocerebrofacial syndrome | C1855663 | UBE3B | Causal Pathogenic evidence from ClinVar | 23200864, 23687348, 28003368 | ClinVar |
| Oculocerebrofacial syndrome, Kaufman type | 2707 | UBE3B | Causal Pathogenic evidence from ClinVar | - | ClinVar |