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References OMIM Gene GeneReviews HGMD HGNC
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