OBO ID: DOID:0111841
Term Name: Shukla-Vernon syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111841 )
Relationships
is a type of:
OTHER Shukla-Vernon syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BCORL1 Shukla-Vernon syndrome 301029
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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