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GENATLAS PHENOTYPE

last update : 28-05-2018

Symbol	PRLTS5
Location	10q24.31
Name	Perrault Syndrome 5
Corresponding gene	TWNK
Main clinical features	amenorrhea, lack of secondary sexual characteristics, and gonadal dysgenesis, in any cases streak ovaries sensorineural hearing loss in infancy; laboratory studies showed elevated luteinizing hormone and follicle-stimulating hormone and low estradiol
Genetic determination	autosomal recessive
Function/system disorder	sex-genitalia
Type	disease

Remark(s)