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GENATLAS PHENOTYPE

last update : 17-09-2019

Symbol	GDTRS
Location	12q24.32
Name	46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
Corresponding gene	DHX37
Main clinical features	gonadal dysgenesis or testis regression during fetal development
Genetic determination	autosomal dominant
Function/system disorder	sex-genitalia
Type	disease

Remark(s)

. DHX37 missense variants in 46,XY disorders/differences of sex development (DSD) is highly significant compared with controls (PMID: 31337883))