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Oocyte/zygote/embryo maturation arrest 19(OZEMA19)

MedGen UID:
1841078
Concept ID:
C5830442
Disease or Syndrome
Synonym: OZEMA19
 
Gene (location): NLRP5 (19q13.43)
 
Monarch Initiative: MONDO:0957231
OMIM®: 620333

Definition

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:
5795
Concept ID:
C0021361
Pathologic Function
Infertility in a woman.

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