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References OMIM Gene GeneReviews HGMD HGNC
last update : 12/10/2007
Symbol PMDS2
Location 12q13
Name persistent Müllerian duct syndrome 2
Corresponding gene AMHR2
Other symbol(s) PMDS
Main clinical features
  • male with bilateral cryptorchidism and inguinal hernias but normal male external genitalia . associated to defect of male sexual differentiation, specifically, failure of mullerian duct regression
  • Genetic determination
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name anti-Müllerian hormone receptor (AMHR2)