Oocyte maturation defect 2- MedGen UID:
- 903836
- •Concept ID:
- C4225210
- •
- Disease or Syndrome
Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.
Oocyte maturation defect 4- MedGen UID:
- 1616340
- •Concept ID:
- C4540284
- •
- Disease or Syndrome
Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest (Chen et al., 2017).
Oocyte maturation defect 9- MedGen UID:
- 1724427
- •Concept ID:
- C5436599
- •
- Disease or Syndrome
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.