| Disease ID | Source | Name | Description |
| 618505 | OMIM | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA) | An autosomal dominant disorder characterized by global developmental delay, variable intellectual disability, poor language acquisition, and dysmorphic facial features including a prominent nasal bridge and coarse features. Some patients manifest autism spectrum disorder. Musculoskeletal features may be present and include widened and thickened hands and fingers, joint hypermobility, clinodactyly of the fifth fingers, and toe syndactyly. The disease is caused by variants affecting the gene represented in this entry. |