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GENATLAS PHENOTYPE
last update : 14-11-2015
Symbol XXGD2
Location 12q15
Name XX gonadal dysgenesis 2
Corresponding gene NUP107
Main clinical features underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism
Genetic determination autosomal recessive
Function/system disorder sex-genitalia
Type disease
Remark(s)