Human genes for Van den Ende-Gupta syndrome
Van den Ende-Gupta syndrome [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.
Synonyms: Van den Ende-Gupta syndrome, DOID:0111699, Van den EndeGupta syndrome, Van den Ende-Gupta disease, Van den Ende-Gupta disorder ...