Blepharophimosis-mental retardation syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Blepharophimosis-intellectual disability syndrome, SBBYS type | 3047 | KAT6B | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Young Simpson syndrome | C1863557 | KAT6B | Causal Pathogenic evidence from ClinVar | 22077973, 22715153, 26938784 | ClinVar |
| Blepharophimosis syndrome Ohdo type | C0796094 | MED12 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Blepharophimosis-intellectual disability syndrome, MKB type | 293707 | MED12 | Causal Pathogenic evidence from ClinVar | - | ClinVar |