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Shukla-Vernon syndrome
Summary
- Synonym
-
- 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.
- Super Class
- X-linked recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111841
- Mondo Disease Ontology
- OMIM
