Microphthalmia/coloboma and skeletal dysplasia syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME | C4014540 | LRBA | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |
| MAB21L2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 24906020, 25719200 | - |