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GENATLAS PHENOTYPE

last update : 12-10-2018

Symbol	XYDSDM
Location	5q11.2
Name	46,XY disorder of development, MAP3K1 related
Other name(s)	46XY sex reversal 6
Corresponding gene	MAP3K1
Other symbol(s)	SRXY6
Main clinical features	partial or complete gonadal dysgenesis (PMID: 21129722)) 46,XY female, with physical appearance eunuchoidal, sparse pubic and axillary hair; both phenotype and gender role were entirely feminine, and normal female external genitalia and normal uterine cervix
Genetic determination	autosomal dominant
Function/system disorder	sex-genitalia
Type	malformation

Remark(s)