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GENATLAS PHENOTYPE

last update : 16-06-2017

Symbol	PHLCH
Location	2p16.3
Name	male pseudohermaphroditism
Corresponding gene	LHCGR
Main clinical features	Leydig cell hypoplasia or with Leydig cell adenoma, a rare form of male pseudohermaphroditism
Genetic determination
Function/system disorder	endocrinology
Type	disease

Gene product

Name	LH receptor (LHCGR),inactivating mutations

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		abnormal protein/loss of function

Remark(s)