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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-04-2013
Symbol PRLTS3
Location 19p13.3
Name Perrault Syndrome 3
Corresponding gene CLPP
Main clinical features
  • sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females
  • neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement
  • Genetic determination autosomal recessive
    Function/system disorder sex-genitalia
    Type disease
  • mutations in CLPP expose dysfunction of mitochondrial protein homeostasis (PMID: 23541340))