Blepharophimosis-intellectual disability syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | SMARCA2 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE | MED12 | Unknown | Orphanet | ||
| BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE | KAT6B | Unknown | Orphanet |