Oocyte/zygote/embryo maturation arrest 19

Summary

Oocyte/zygote/embryo maturation arrest-19 (OZEMA19) is characterized by female infertility due to oocyte maturation arrest and early embryonic arrest. Oocyte arrest at the germinal vesicle stage has been observed. In other patients, most oocytes can be fertilized and begin cleavage, but they undergo maturation arrest at the 2- to 7-cell stage on day 3 (Mu et al., 2019; Huang et al., 2022). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

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Associated genes Help
Genes reported to contribute to the condition.

NLRP5
1 test
Also known as: CLR19.8, MATER, NALP5, OZEMA19, PAN11, PYPAF8, NLRP5
Summary: NLR family pyrin domain containing 5

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the genitourinary system
- Female infertility
  Female infertility
  - MedGen UID: 5795
  - Concept ID: C0021361
  - Finding: Pathologic Function
  Abnormality of the genitourinary system
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