Version: 8.0.0
Date: Tue Jan 28 2025
Van den Ende-Gupta syndrome
DOID:0111699
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Van den Ende-Gupta syndrome

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.
Synonyms
  • blepharophimosis, arachnodactyly, and congenital contractures
  • Marden-Walker-like syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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