Conditions / Genetic

hypogonadotropic hypogonadism 9 with or without anosmia

info · Genetic · ICD-10: E23.0

A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene.

Signs and symptoms

  • Hypogonadotropic hypogonadism
  • Micropenis
  • Cleft palate
  • Gynecomastia
  • Cleft lip
  • Osteoporosis
  • Hyposmia
  • Clinodactyly
  • Decreased testicular size
  • Bifid nose