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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
  • 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: -

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