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GTR Home > Conditions/Phenotypes > Perrault syndrome 3

Summary

Excerpted from the GeneReview: Perrault Syndrome
Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.

Available tests

31 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: DFNB81, PRLTS3, CLPP
    Summary: caseinolytic mitochondrial matrix peptidase proteolytic subunit

Clinical features

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