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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 mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function

Remark(s)