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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)