| Disease ID | Source | Name | Description |
| 610759 | OMIM | Cornelia de Lange syndrome 3 with or without midline brain defects (CDLS3) | A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic mental retardation. The disease is caused by variants affecting the gene represented in this entry. |