Perrault syndrome 6
ORPHA: 2855
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Perrault syndrome 6, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentIncreased circulating gonadotropin levelHypoplasia of the uterusPrimary amenorrheaPremature ovarian insufficiencyStreak ovaryAzoospermiaCleft palateHigh palateBicornuate uterusSecondary amenorrheaOligomenorrheaAtaxiaGlobal developmental delaySpecific learning disabilityObesityDisproportionate tall staturePeripheral axonal neuropathyAbnormal pyramidal sign
Classification & Codes
Orphanet Code
ORPHA:2855Perrault syndrome 6
| Orphanet | ORPHA:2855 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO