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GENATLAS PHENOTYPE
last update : 23-04-2009
Symbol HSD17B3D
Location 9q22.3
Name 17-@beta hydroxysteroid dehydrogenase III deficiency
Corresponding gene HSD17B3
Other symbol(s) EDH17B3
Main clinical features
  • elevated androstenedione, hypospadias, pseudovaginal, perineoscrotal, male pseudohermaphroditism
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name 17 beta-hydroxysteroid dehydrogenase type 3 (HSD17B3)
    Remark(s)