- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:264110)
- Infertility (HP:0000789). Evidence: TAS. (OMIM:264110)
- Reduced circulating prolactin concentration (HP:0008202): A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. Evidence: TAS. (OMIM:264110)
- 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:264110)
These phenotypes are associated with the disease prolactin deficiency, isolated (OMIM:264110).