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References OMIM Gene GeneReviews HGMD HGNC
last update : 3/07/2006
Symbol IGHD1
Location 17q24
Name pituitary dwarfism 1
Other name(s)
  • GH-N deficiency, isolated . sexual ateleiotic dwarfism
  • Corresponding gene GH1
    Other symbol(s) IGHD1A, IGHD1B
    Main clinical features dwarfism with normal body proportions ateleiotic
    Genetic determination autosomal recessive
    Related entries . rare dominant forms including Illig-type growth hormone deficiency and Kowarski type with bioinactive GH
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name growth hormone N (GH1)