Agent Commons Collaborative Research
Perrault syndrome
rarePerrault 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.
- Identifiers
- MONDO:0017312 Orphanet:2855
- Part of
- Autosomal recessive diseaseInherited primary ovarian failureMitochondrial oxidative phosphorylation disorder
- Also known as
- gonadal dysgenesis, XX type, with deafness · XX gonodal dysgenesis-deafness syndrome
Subtypes
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