Perrault syndrome
Findings
No curated finding names Perrault syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017312), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased circulating gonadotropin levelHPOHP:0000837
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Hypoplasia of the uterusHPOHP:0000013
- Frequent (30% to 79% of cases)
- Premature ovarian insufficiencyHPOHP:0008209
- Frequent (30% to 79% of cases)
- Primary amenorrheaHPOHP:0000786
- Frequent (30% to 79% of cases)
- Streak ovaryHPOHP:0010464
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- AzoospermiaHPOHP:0000027
- Occasional (5% to 29% of cases)
- Bicornuate uterusHPOHP:0000813
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- Disproportionate tall statureHPOHP:0001519
- Occasional (5% to 29% of cases)
Show the remaining 7
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
- ObesityHPOHP:0001513
- Occasional (5% to 29% of cases)
- OligomenorrheaHPOHP:0000876
- Occasional (5% to 29% of cases)
- Peripheral axonal neuropathyHPOHP:0003477
- Occasional (5% to 29% of cases)
- Secondary amenorrheaHPOHP:0000869
- Occasional (5% to 29% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: Perrault syndrome
- Also called
- XX gonodal dysgenesis-deafness syndrome