Visualize Submit Comment

Metadata
ID	DOID:0111841
Name	Shukla-Vernon syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/30941876
Xrefs	MIM:301029
Synonyms	SHUVER [EXACT]
Parent Relationships	is_a syndrome is_a X-linked recessive disease
Subclass Logical Relationships	has material basis in some X-linked recessive inheritance