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GENATLAS PHENOTYPE
last update : 25-05-2013
Symbol PRLTS4
Location 3p21.31
Name Perrault Syndrome 4
Corresponding gene LARS2
Main clinical features
  • premature ovarian failure and severe hearing loss
  • ovarian dysgenesis, with amenorrhea, streak gonads, and 46XX karyotypes with sensorineural hearing loss, progressive, but varied in age of onset and severity
  • affected males were fertile, with healthy, hearing children
    Genetic determination autosomal recessive
    Function/system disorder sex-genitalia
    Type disease
    Remark(s)