- Premature ovarian insufficiency (HP:0008209, a Human Phenotype Ontology term): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: PCS. (PMID:28449065)
- Hypoplasia of the uterus (HP:0000013, a Human Phenotype Ontology term): Underdevelopment of the uterus. Evidence: PCS. Frequency: 1/1. (PMID:28449065)
- Secondary amenorrhea (HP:0000869, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/2. (PMID:28449065)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 2/2. (PMID:28449065)
- Irregular menstruation (HP:0000858, a Human Phenotype Ontology term): Abnormally high variation in the amount of time between periods. Evidence: PCS. (PMID:28449065)
- Autosomal recessive inheritance (HP:0000007, 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 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:28449065)
- Streak ovary (HP:0010464, a Human Phenotype Ontology term): A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. Evidence: PCS. Frequency: 1/1. (PMID:28449065)
- Primary amenorrhea (HP:0000786, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/2. (PMID:28449065)
These phenotypes are associated with the disease Perrault syndrome 6 (OMIM:617565, an entry in Online Mendelian Inheritance in Man).