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  3. OOCYTE MATURATION DEFECT 4; OOMD4

Oocyte Maturation Defect 4; Oomd4

Table of contents:

Description

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).

Genes related to Oocyte Maturation Defect 4; Oomd4

  • PATL2

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Oocyte Maturation Defect 4; Oomd4

  • Infertility
  • Polycystic ovaries

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Oocyte Maturation Defect 4; Oomd4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PATL2.

By Fulgent Genetics Fulgent Genetics (United States).

PATL2
Specificity
100 %
Genes
100 %

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Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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