| Disease ID | Source | Name | Description |
| 300882 | OMIM | Cornelia de Lange syndrome 5 (CDLS5) | A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. The disease is caused by variants affecting the gene represented in this entry. |
| 309585 | OMIM | Wilson-Turner X-linked mental retardation syndrome (WTS) | A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males. The disease is caused by variants affecting the gene represented in this entry. |