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GENATLAS PHENOTYPE
last update : 21/10/2005
Symbol VKCFD2
Location 16p11-q11
Name vitamin K-dependent clotting factors, combined deficiency 2
Other name(s) familial multiple coagulation factor deficiency 5
Corresponding gene VKORC1
Other symbol(s) FMFD5
Main clinical features
  • leading to a bleeding tendency that is usually reversed by oral administration of vitamin K
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/vitamin
    Type disease
    Gene product
    Name vitamin K epoxide reductase complex, subunit 1