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Van den Ende-Gupta syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0111699

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 SCARF2 on chromosome 22q11.21. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Van den Ende-Gupta syndrome

Synonyms
  • Marden-Walker-like syndrome
  • Marden-Walker-like syndrome without psychmotor retardation
  • VDEGS
  • blepharophimosis, arachnodactyly, and congenital contractures
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disease_ontology

id

DOID:0111699