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Van den Ende-Gupta syndrome
Summary
- Synonym
-
- Marden-Walker-like syndrome
- Marden-Walker-like syndrome without psychmotor retardation
- VDEGS
- blepharophimosis, arachnodactyly, and congenital contractures
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111699
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
