| Disease ID | Source | Name | Description |
| 309583 | OMIM | X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) | Characterized by moderate intellectual deficit, hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Transmission is X-linked recessive. The disease is caused by variants affecting the gene represented in this entry. |