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Cortical blindness, retardation, and postaxial polydactyly  305


Cortical Blindness, Retardation, and Postaxial Polydactyly     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;     222c25c ;  305

General: Autosomal recessive; combination of cortical blindness, retardation, and postaxial polydactyly.

Ocular: Cortical blindness.

Clinical: Growth and psychomotor development severely retarded; prominent forehead and short nose.

Hernandez A, et al. Cortical blindness, growth, and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome. Clin Genet 1985; 28:251-254.

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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