HARS2

Clinical Characteristics for Families

People affected by Perrault syndrome will have hearing loss. This is variable and can be mild to profound. It usually occurs in childhood and can be apparent at birth. It can progress over time.
Women affected by Perrault syndrome will have problems with their ovaries. This may mean that periods do not start and puberty is delayed. Some women will have an early menopause where periods stop at a younger age. The condition results in reduced fertility. There is little evidence that Perrault syndrome due to changes in the HARS2 gene affects male fertility.
So far, we do not think that the form of Perrault syndrome due to changes in the HARS2 gene causes neurological problems or a severe childhood illness (these problems can occur with some of the other genes that lead to Perrault syndrome).