| Metadata | |
|---|---|
| ID | DOID:0111699 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/23808541 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719845008 |
| Subsets |
DO_rare_slim |
| Synonyms |
blepharophimosis, arachnodactyly, and congenital contractures [EXACT] Marden-Walker-like syndrome [EXACT] Marden-Walker-like syndrome without psychmotor retardation [EXACT] VDEGS [EXACT] |
| Parent Relationships |
is_a syndrome |