Perrault syndrome is a rare autosomal recessive condition characterised by sensorineural hearing loss in both sexes and primary ovarian insufficiency in 46, XX females. Some affected individuals also have neurological features such as neuropathy and ataxia. Variants in CLPP are also associated with a recessive rare condition characterised by sensorineural hearing loss, epilepsy and leukoencephalopathy.
CLPP