OBO ID: DOID:0111699
Term Name: Van den Ende-Gupta syndrome Search Ontology:
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 SCARF2 on chromosome 22q11.21. https://www.ncbi.nlm.nih.gov/pubmed/23808541
References:
Ontology: Human Disease   (DOID:0111699)
OTHER Van den Ende-Gupta syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCARF2 Van den Ende-Gupta syndrome 600920
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None