ERAL1

Clinical Characteristics

Perrault syndrome
Hearing loss – Sensorineural hearing loss is bilateral and moderate to profound with onset pre-lingual (congenital) to early-childhood. Hearing loss due to ERAL1 associated Perrault syndrome is progressive. There is no evidence of impaired vestibular function.

Ovarian dysfunction – Affected females have gonadal dysfunction presenting as a spectrum of ovarian dysfunction ranging from gonadal dysgenesis presenting as primary amenorrhea (also known as primary ovarian failure) to primary ovarian insufficiency (POI) (presenting as secondary amenorrhea). Ovaries are small, streak or absent and hormone profiles indicate hypergonadotropic hypogonadism.

Neurological features – To date no individuals with ERAL1 associated Perrault syndrome have been reported to have neurological problems. This may change as more individuals are ascertained. The general neurological features of Perrault syndrome include learning difficulties, developmental delay, and cerebellar ataxia. There is no consistent pattern observed in the presentation of neurological features.