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GENATLAS PHENOTYPE
last update : 18/07/2006
Symbol LPCN
Location 19p13.2
Name leprechaunism
Other name(s)
  • Donohue syndrome
  • insulin resistance
  • Corresponding gene INSR
    Main clinical features apparent cessation of growth at about the seventh month of gestation, peculiar facies creating a gnomelike appearance and leading to the designation, and severe endocrine disturbance indicated by emaciation, enlargement of breasts and clitoris, and histologic changes in the ovaries, pancreas and breasts
    Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name insulin receptor (INSR)
    Remark(s)