Ophthalmoplegia, Progressive External, with Scrotal Tongue and Mental Deficiency
General: Autosomal dominant.
Ocular: Progressive external ophthalmoplegia; progressive chorioretinal sclerosis; bilateral ptosis; convergence paresis; myopia; optic atrophy; retinitis pigmentosa.
Clinical: Bilateral facial weakness; lingua scrotalis; mental retardation; cerebellar ataxia; weakness and spasticity of the limbs.
Leuic ZM, et al. Progressive nuclear ophthalmoplegia associated with mental deficiency, lingua scrotalis, and other neurologic and ophthalmologic signs in a family. Neurology 1975; 25:68-71.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
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