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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-10-2017
Symbol OOMD2
Location 10p15.3
Name oocyte maturation defect 2
Corresponding gene TUBB8
Main clinical features
  • primary infertility due to oocyte meiotic arrest
  • characterized by infertility, caused by absence of the zona pellucida that results in degeneration of oocytes and 'empty follicle syndrome' on in vitro fertilization procedures
  • empty follicle syndrome (EFS) is a condition in which the ovarian response to stimulation and follicular development seems normal but no oocytes are retrieved for fertilization
  • Genetic determination autosomal dominant
    Function/system disorder sex-genitalia
    Type disease