| Disease ID | Source | Name | Description |
| 615009 | OMIM | Schuurs-Hoeijmakers syndrome (SHMS) | A syndromic form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. SHMS patients have intellectual disability in combination with distinct craniofacial features and genital abnormalities. The disease is caused by variants affecting the gene represented in this entry. |