HARS2

Professionals

Perrault syndrome is a rare clinically and genetically heterogeneous condition. It is characterised by bilateral sensorineural congenital or childhood onset hearing loss and in females with primary ovarian insufficiency. Approximately 100 individuals have been reported in the literature but this is a significant under ascertainment of its true prevalence.
In some individuals with Perrault syndrome there are neurological features but this have not been described to date for individuals with variants in HARS2.