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GENATLAS PHENOTYPE
last update : 15-06-2011
Symbol GHIS4
Location 3q26
Name growth hormone insensitivity 4, partial
Corresponding gene GHSR
Main clinical features
  • growth delay (-3.0 sd) associated with recurrent episodes of abdominal pain, vomiting, ketosis, hypoglycemia, and a low body mass index
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease
    Remark(s)