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GENATLAS PHENOTYPE
last update : 07-04-2021
Symbol ODG4
Location 6q22.31
Name ovarian dysgenesis 4
Corresponding gene MCM9
Main clinical features
  • hypergonadotropic primary amenorrhea, short stature, low weight, and a normal 46,XX karyotype
  • estradiol levels were low, whereas LH and FSH levels were high, and PRL were normal
  • ovaries were not identified on pelvic ultrasound, and uterus were infantile
  • also sporadic premature ovarian insufficiency (POI)
  • Genetic determination autosomal recessive
    Function/system disorder sex-genitalia
    Type disease
    Remark(s)