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46,XY sex reversal 1
Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein. [from NCI]
Oocyte maturation defect 8
Oocyte/zygote/embryo maturation arrest-8 (OZEMA8) is characterized by female infertility due to failure of the fertilized ovum to undergo zygotic cleavage (Zheng et al., 2020). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]
Oocyte maturation defect 9
Oocyte/zygote/embryo maturation arrest-9 (OZEMA9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed (Zhang et al., 2020). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]
Abnormality of the menstrual cycle
An abnormality of the ovulation cycle. [from HPO]
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