- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 1/8. (PMID:26912466)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 4/7. (PMID:26912466)
- Post-partum hemorrhage (HP:0011891): Significant maternal hemorrhage/blood loss following deilvery of a child. Evidence: PCS. Frequency: 1/8. (PMID:26912466)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 8/8. (PMID:26912466)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/7. (PMID:26912466)
- Impaired platelet aggregation (HP:0003540): An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. Evidence: PCS. Frequency: 0/3. (PMID:26912466)
- Macrothrombocytopenia (HP:0040185). Evidence: PCS. Frequency: 8/8. (PMID:26912466)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 8/8. (PMID:26912466)
- Autosomal dominant inheritance (HP:0000006): 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:26912466)
These phenotypes are associated with the disease autosomal dominant nonsyndromic hearing loss 1 (OMIM:124900).