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1.

Oocyte maturation defect 13

Oocyte/zygote/embryo maturation arrest-13 (OZEMA13) is characterized by female infertility due to recurrent preimplantation embryonic arrest (Zheng et al., 2022). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

MedGen UID:
1824041
Concept ID:
C5774268
Disease or Syndrome
2.

Spermatogenic failure 78

Spermatogenic failure-78 (SPGF78) is characterized by male infertility resulting from an abnormal acrosome structure due to a manchette assembly defect (Dai et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1824049
Concept ID:
C5774276
Disease or Syndrome
3.

Oocyte maturation defect 10

Oocyte/zygote/embryo maturation arrest-10 (OZEMA10) is characterized by high rates of abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus. Morphologically normal zygotes often undergo early embryonic arrest, and surviving embryos fail to establish a successful pregnancy after implantation (Wang et al., 2020). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

MedGen UID:
1766720
Concept ID:
C5436938
Disease or Syndrome
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