| Term Name: | Shukla-Vernon syndrome |
|---|---|
| Synonyms: | SHUVER |
| Definition: | A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. |
| Ontology: | Human Disease [DOID:0111841] ( DOID:0111841 ) |