Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | C1845366 | OPHN1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 9582072, 20528889, 29510240 | - |