Shukla-Vernon syndrome (DOID:0111841)
Alliance: disease page
Synonyms: SHUVER
Alt IDs: OMIM:301029
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.