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Obesity due to leptin receptor gene deficiency

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Description

Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

76

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Genes

External Links

  • OMIM

    614963

  • Orphanet

    179494

  • HPO
  • Medgen

    C3554225

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