- Reduced factor VIII activity (HP:0003125): Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. Evidence: PCS. (PMID:18391077)
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: TAS. (OMIM:613625)
- Reduced coagulation factor V activity (HP:0003225): Decreased activity of coagulation factor V. Evidence: PCS. (PMID:18391077)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:18391077)
- Persistent bleeding after trauma (HP:0001934). Evidence: TAS. (OMIM:613625)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. (OMIM:613625)
These phenotypes are associated with the disease factor 5 and Factor VIII, combined deficiency of, 2 (OMIM:613625).