- Abnormal bleeding (HP:0001892, a Human Phenotype Ontology term): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: PCS. Frequency: 10/15. (PMID:18065693;PMID:23253071;PMID:20081061;PMID:19336737)
- Menorrhagia (HP:0000132, a Human Phenotype Ontology term): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 1/1. (PMID:20081061)
- Impaired arachidonic acid-induced platelet aggregation (HP:0011870, a Human Phenotype Ontology term): Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. Evidence: PCS. Frequency: 2/2. (PMID:20081061;PMID:19336737)
- Impaired ristocetin-induced platelet aggregation (HP:0011871, a Human Phenotype Ontology term): Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. Evidence: PCS. Frequency: 0/2. (PMID:20081061;PMID:19336737)
- Impaired collagen-induced platelet aggregation (HP:0008320, a Human Phenotype Ontology term): Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. Evidence: PCS. Frequency: 5/5. (PMID:23253071;PMID:20081061)
- Increased mean platelet volume (HP:0011877, a Human Phenotype Ontology term): Average platelet volume above the upper limit of the normal reference interval. Evidence: PCS. Frequency: 8/8. (PMID:18065693;PMID:19336737)
- Impaired epinephrine-induced platelet aggregation (HP:0008148, a Human Phenotype Ontology term): Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. Evidence: PCS. Frequency: 2/2. (PMID:20081061;PMID:19336737)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 15/15. (PMID:18065693;PMID:23253071;PMID:20081061;PMID:19336737)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:18065693)
- Impaired ADP-induced platelet aggregation (HP:0004866, a Human Phenotype Ontology term): Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. Evidence: PCS. Frequency: 6/6. (PMID:23253071;PMID:20081061;PMID:19336737)
- Platelet anisocytosis (HP:0032438, a Human Phenotype Ontology term): Abnormally increased variability in the size of platelets. Evidence: PCS. Frequency: 15/15. (PMID:18065693;PMID:23253071;PMID:20081061;PMID:19336737)
These phenotypes are associated with the disease bleeding disorder, platelet-type, 24 (OMIM:619271, an entry in Online Mendelian Inheritance in Man).