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Ophthalmoplegia, familial static


Ophthalmoplegia, Familial Static

General: Autosomal dominant; forms include internal, external, and 444d31e total ophthalmoplegia.

Ocular: Ptosis; almost completely fixed eyes; nystagmoid movements; unequal pupils; pupil paralysis.

Clinical: None.

Lees F. Congenital Static Familial Ophthalmoplegia. J Neurol Neurosurg Psychiatry 1960; 23:44-51.

Mace JW, et al. Congenital hereditary nonprogressive external ophthalmoplegia. J Neurol Neurosurg Psychiatry 1960; 23:46-51.

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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