Version: 8.0.0
Date: Tue Jan 28 2025
Shukla-Vernon syndrome
DOID:0111841
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • SHUVER
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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    Associated Alleles

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      Associated Models

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