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