| Disease ID | Source | Name | Description |
| 301029 | OMIM | Shukla-Vernon syndrome (SHUVER) | An X-linked neurodevelopmental disorder manifesting in affected males with intellectual and learning disability, motor and language delay, autism spectrum disorder, attention deficit and hyperactivity disorder, and dysmorphic features. Some patients may have seizures and/or cerebellar atrophy on brain imaging. Carrier females may have mild disease manifestations. The disease may be caused by variants affecting the gene represented in this entry. |