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"Cone-rod" dystrophy hearing loss
- ... By middle age, most affected individuals have profound hearing loss. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. Some ...
- ... characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic ...
- ... joints.Children with Saul-Wilson syndrome often have hearing loss, clouding of the lenses of the eyes (cataracts), or a blue tint to the whites of the eyes (blue sclerae). They may also have retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ...
- ... the vision loss results from a condition called retinitis pigmentosa. This ... seizures, hearing loss, and abnormalities of the electrical signals that ...
- ... caused by abnormalities of the inner ear (sensorineural hearing loss), recurrent ... pigmentosa with erythrocytic microcytosis (RPEM), each named for its ...
- ... weakness and wasting; poor balance and coordination (ataxia); hearing loss; and dry, scaly skin (ichthyosis). Additionally, some people ... disease Genetic Testing Registry: Phytanic acid storage disease Retinitis pigmentosa National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
- ... fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also ... input (such as sight, hearing, and smell). The proteins produced from BBS genes ...