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Vitamin K-dependent clotting factors, combined deficiency of, type 2

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Description

Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome (Fregin et al., 2002).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

23

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Genes

External Links

  • OMIM

    607473

  • Orphanet
  • HPO
  • Medgen

    C1843832

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