DISEASES

Disease-gene associations mined from literature

Human genes for Ellis-Van Creveld syndrome

Ellis-Van Creveld syndrome [DOID:12714]

A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2.

Synonyms:  Ellis-Van Creveld syndrome,  DOID:12714,  EllisVan Creveld syndrome,  Ellis-Van Creveld disease,  Ellis-Van Creveld disorder ...

Linkouts:  OMIM