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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-04-2012
Symbol HHI3
Location 2q14.3
Name hypogonadism hypogonadotropic isolated 3
Other name(s) hypogonadotropic hypogonadism 15 with or without anosmia
Corresponding gene HS6ST1
Other symbol(s) HH15
Main clinical features
  • incomplete or absent puberty and infertility as a result of defects in gonadotropin-releasing hormone neuron development or function, with either normal olfaction (nIHH) or variable degrees of olfactory dysfunction
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease