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Start free with EleplanPerrault syndrome type 2
ORPHA:642976Clinical subtype
Also called XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations
What it is
A form of Perrault syndrome characterized by sensorineural, generally bilateral, prelingual, progressive and sometimes asymmetric hearing loss, primary ovarian dysgenesis in females and neurological features of variable severity including cerebellar dysfunction/athrophy with ataxia, intellectual disability, neuropathy and behavioral symptoms. Additional clinical features may involve developmental delay, muscular and renal manifestations.
Key facts
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- <1 / 1 000 000Perrault syndrome
- Age of onset
- Adolescent, Adult, ChildhoodPerrault syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Genes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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