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Aniridia, partial with unilateral renal agenesis and psychomotor retardation


Aniridia, Partial with Unilateral Renal Agenesis and Psychomotor Retardation

General: Autosomal recessive.

Ocular: Congenital glaucoma; telecanthus; 555i83f absence of iris; hypertelorism.

Clinical: One kidney absent or in failure; motor effects of cerebral or psychic activity retarded or slowed.

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/.

Sommer A, et al. A syndrome of partial aniridia, unilateral renal agenesis, and mild psychomotor retardation in siblings. J Pediatr 1974; 85:870-872.





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