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 )

Relationships
is a type of: syndrome X-linked recessive disease