| Disease ID | Source | Name | Description |
| 300472 | OMIM | Mental retardation, X-linked, syndromic, 28 (MRXS28) | A mental retardation syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry. |