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GENATLAS PHENOTYPE
last update : 24/08/2006
Symbol NIHH
Location 8p11.22
Name normosmic idiopathic hypogonadotropic hypogonadism
Corresponding gene FGFR1
Main clinical features
  • eunuchoidism, hypogonadotropic hypogonadism with normal olfaction, with normal MRI of the olfactory system
    • Genetic determination
    Related entries gonadotropin deficiency, familial, idiopathic
    Function/system disorder neurology
    endocrinology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)