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References OMIM Gene GeneReviews HGMD HGNC
last update : 12/10/2007
Symbol PMDS1
Location 19p13.3
Name persistent Müllerian duct syndrome, type I and II
Corresponding gene AMH
Other symbol(s) AMH, PMDS2
Main clinical features
  • pseudohermaphroditism, male internal . inguinal hernia . persistent oviduct syndrome . associated to defect of male sexual differentiation, specifically, failure of mullerian duct regression
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name anti-Mullerian hormone (AMH)