Search Ontology:
Human Disease

Van den Ende-Gupta syndrome

Term ID
DOID:0111699
Synonyms
  • blepharophimosis, arachnodactyly, and congenital contractures
  • Marden-Walker-like syndrome
  • Marden-Walker-like syndrome without psychmotor retardation
  • VDEGS
Definition
A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. https://www.ncbi.nlm.nih.gov/pubmed/23808541
References
Ontology
Human Disease   ( DOID:0111699 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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