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GENATLAS PHENOTYPE

last update : 28-11-2013

Symbol	GHRHR
Location	7p14.3
Name	dwarfism with growth hormone deficiency
Corresponding gene	GHRHR
Main clinical features	poor growth since infancy and extremely short stature associated to frontal bossing and predominantly truncal obesity; failure to produce growth hormone in response to standard provocative tests and to repetitive stimulation with growth hormone-releasing hormone, but response to administration of growthhormone
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

Gene product

Name	growth hormone releasing hormone receptor (GHRFR)

Remark(s)