Term Name: | Shukla-Vernon syndrome |
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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 ) |