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Start free with EleplanPerrault syndrome type 1
ORPHA:642945Clinical subtype
Also called XX gonadal dysgenesis-deafness syndrome-without neurological manifestations
What it is
A form of Perrault syndrome characterized by sensorineural hearing loss and ovarian dysgenesis in females. No neurological features are observed. Hearing loss is sensorineural, generally bilateral, prelingual, progressive, sometimes asymmetric and manifests with variable severity (mild to profound). Majority of the cases have primary amenorrhea.
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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