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Perrault syndrome

Disease definition

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

ORPHA:2855

Classification level: Disorder
  • Synonym(s):
    • XX gonodal dysgenesis-deafness syndrome
    • XX gonodal dysgenesis-hearing loss syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Childhood, Adult
  • ICD-10: Q87.8
  • OMIM: 233400  614129  614926  615300  616138  617565
  • UMLS: C0685838
  • MeSH: -
  • GARD: 2542
  • MedDRA: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.