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NR5A1-related sex development disorder
A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female.
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46,XX sex reversal 4 0 trials
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46,XY sex reversal 3 0 trials
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Premature ovarian failure 7 0 trials
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Spermatogenic failure 8 0 trials