Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
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) |