ORPHA:2855
Perrault syndrome
Also called XX gonadal dysgenesis-deafness syndrome, XX gonadal dysgenesis-hearing loss syndrome
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Adult, Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2855 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Sensorineural hearing impairment
- Increased circulating gonadotropin level
- Hypoplasia of the uterus
- Primary amenorrhea
- Premature ovarian insufficiency
- Streak ovary