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GENATLAS PHENOTYPE
last update : 27-03-2009
Symbol HPPX
Location Xq27
Name hypopituitarism, variable degree
Corresponding gene SOX3
Other symbol(s) XH
Main clinical features
  • from isolated growth hormone dysfunction to panhypopituitarism
  • neonatal hypoglycemia and growth hormone deficiency in addition to variable deficiencies of other pituitary hormones; on MRI, hypoplasia of the anterior pituitary with hypoplasia or absence of the lower half of the infundibulum
  • Genetic determination sex linked
    Function/system disorder endocrinology
    Type disease
    Remark(s)