FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Shukla-Vernon syndrome ID (Ontology) DOID:0111841 (Human Disease)
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.
Also Known As "SHUVER"
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 Genes
 Shukla-Vernon syndrome       1
 for disease ribbon | Shukla-Vernon syndrome       1
 model of | Shukla-Vernon syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
disease                         |
 |__syndrome____________________|
                                Shukla-Vernon syndrome  1 rec.
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Is a X-linked recessive disease
syndrome
Part of
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Synonyms
  • "SHUVER" EXACT OMO:0003012
Secondary IDs
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MIM:301029