- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:233420)
- Sex reversal (HP:0012245): Development of the reproductive system is inconsistent with the chromosomal sex. Evidence: PCS. Frequency: 6/6. (PMID:15356051)
- Dysgerminoma (HP:0100621): The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. Evidence: PCS. Frequency: 1/6. Onset: Young adult onset (HP:0011462). (PMID:15356051)
- Gonadoblastoma (HP:0000150): The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:233420)
- Gonadoblastoma (HP:0000150): The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. Evidence: PCS. Frequency: 2/6. Onset: Juvenile onset (HP:0003621). (PMID:15356051)
- Hypoplasia of the fallopian tube (HP:0008697): Developmental hypoplasia of the fallopian tube. Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:233420)
- 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: PCS. (PMID:15356051)
- Streak ovary (HP:0010464): 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: 6/6. (PMID:15356051)
- Gonadal dysgenesis, male (HP:0008668): Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation. Evidence: PCS. Frequency: 6/6. (PMID:15356051)
- Abnormal epididymis morphology (HP:0009714): An abnormality of the epididymis. Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:233420)
- Primary amenorrhea (HP:0000786). Evidence: TAS. (OMIM:233420)
These phenotypes are associated with the disease 46,XY sex reversal 7 (OMIM:233420).