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Oocyte/zygote/embryo maturation arrest 20(OZEMA20)

MedGen UID:
1841175
•Concept ID:
C5830539
•
Disease or Syndrome
Synonym: OZEMA20
 
Gene (location): MOS (8q12.1)
 
Monarch Initiative: MONDO:0957278
OMIM®: 620383

Definition

Oocyte/zygote/embryo maturation arrest-20 (OZEMA20) is characterized by early embryonic arrest with fragmentation. Extrusion of a large polar body 1 is observed in some patients (Zhang et al., 2021; Zhang et al., 2022). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

Clinical features

From HPO
Amenorrhea
MedGen UID:
8016
•Concept ID:
C0002453
•
Finding
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
See: Feature record | Search on this feature
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature

Supplemental Content

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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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