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GENATLAS PHENOTYPE
last update : 24-03-2021
Symbol POF13
Location 6p21.33
Name premature ovarian failure 13
Corresponding gene MSH5
Main clinical features
  • oligomenorrhea after menarche at ages 13 and 14 years, with amenorrhea occurring approximately 10 years later
  • elevated serum FSH, infantile uteri, and atrophic ovaries devoid of follicles
  • Genetic determination autosomal recessive
    Function/system disorder sex-genitalia
    Type disease
    Remark(s)