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Cataract, microphthalmia and nystagmus 212


Cataract, Microphthalmia and Nystagmus     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ;     747c27h ; 212

General: Autosomal recessive.

Ocular: Miosis; cataract; nystagmus; microphthalmia.

Clinical: None.



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/.

Temtamy SA, Shalach BA. Genetic heterogeneity of the syndrome: microphthalmos with congenital cataract. Birth Defects 1974; 10:292-293.

Zeiter HJ. Congenital microphthalmos: a pedigree of 4 affected siblings and an additional report of 44 sporadic cases. Am J Ophthalmol 1963; 55:910-922.




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