Perrault syndrome
Both males and females with Perrault syndrome have hearing loss caused by problems of the inner ear also referred to as sensorineural hearing loss. Changes in LARS2 which cause Perrault syndrome can be associated with an unusual form of hearing loss known as low frequency hearing loss. In low frequency hearing loss lower pitch sounds are harder to hear than higher pitched sounds. This is the opposite of most other cases of hearing loss where the higher pitched sounds are harder to hear. In addition to the hearing loss women with Perrault syndrome have ovarian problems meaning many women either never have any periods or have very few before they stop altogether. This can mean women with Perrault syndrome may never start puberty due to hormone problems and it is very unlikely women with Perrault syndrome will be able to have children without intervention such as egg donation. Some people with Perrault syndrome can also have neurological symptoms. The neurological symptoms can include types of cerebral palsy, ataxia (lack of coordination), neuropathy (problems with the nerves which can cause numbness or weakness) and learning difficulties.
LARS2 associated lethal infantile multisystem failure
This condition is more severe than Perrault syndrome but is also inherited recessively. This condition causes organ failure including that of the heart, liver and kidneys. This condition is fatal shortly after birth.