Affected individuals with biallelic variants in PRORP can have bilateral sensorineural hearing loss, and females present with primary ovarian insufficiency (resulting in a range of primary amenorrhea to premature menopause). The hearing loss is variable and can be profound congenital to a childhood onset progressive form.
Neurological features can include learning and developmental disability, ataxia, epilepsy and behavioral disturbance.
The severe childhood form can present with metabolic crisis with raised lactic acid.
PRORP