Konigsmark Knox Hussels syndrome
Other Names for this Disease
- Deafness optic atrophy syndrome
- Dominant congenital deafness and progressive optic nerve atrophy
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sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity. Some affected individuals can develop ophthalmoplegia (paralysis of the muscles that control eye movements), ptosis, ataxia, and non-specific myopathy in middle age. This condition is caused by a particular mutation in the OPA1 gene and is inerited in an autosomal dominant fashion.Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive
Last updated: 5/13/2011
- Optic atrophy 1 and deafness. Online Mendelian Inheritance of Man (OMIM). 2010; http://www.ncbi.nlm.nih.gov/omim/125250. Accessed 5/13/2011.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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