Disease ID | Source | Name | Description |
618872 | OMIM | Nizon-Isidor syndrome (NIZIDS) | An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, global developmental delay, speech impairment, and behavioral abnormalities including autism spectrum disorder and aggressive behavior. Other features include a thin corpus callosum, and mild facial dysmorphism. Disease onset is in infancy or early childhood. The disease is caused by variants affecting the gene represented in this entry. |