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Items: 2

1.

Oocyte maturation defect 9

Oocyte/zygote/embryo maturation arrest-9 (OZEMA9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed (Zhang et al., 2020). For a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

MedGen UID:
1724427
Concept ID:
C5436599
Disease or Syndrome
2.

Mosaic variegated aneuploidy syndrome 3

MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300). [from OMIM]

MedGen UID:
1616382
Concept ID:
C4539839
Disease or Syndrome

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