Shukla-Vernon syndrome

Term ID

DOID:0111841

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. https://www.ncbi.nlm.nih.gov/pubmed/30941876

References

• MIM:301029

Ontology

Human Disease   ( DOID:0111841 )