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Oocyte/zygote/embryo maturation arrest 19(OZEMA19)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: OZEMA19
Gene (location): NLRP5 (19q13.43)
Monarch Initiative: MONDO:0957231
OMIM®: 620333


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]

Clinical features

From HPO
Female infertility
MedGen UID:
Concept ID:
Pathologic Function
Infertility in a woman.

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