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Clinical Characteristics

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. 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.