- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 1/3. (PMID:24195502)
- Agalactia (HP:0031109): Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:615555)
- Increased circulating prolactin concentration (HP:0000870): The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. Evidence: PCS. Frequency: 3/3. (PMID:24195502)
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 1/3. (PMID:24195502)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/3. (PMID:24195502)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: PCS. Frequency: 2/3. (PMID:24195502)
- Galactorrhea (HP:0100829): Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. Evidence: PCS. Frequency: 1/3. (PMID:24195502)
- 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: TAS. (OMIM:615555)
- 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:24195502)
These phenotypes are associated with the disease familial hyperprolactinemia (OMIM:615555).