Cortical Blindness, Retardation, and Postaxial Polydactyly
Cortical Blindness, Retardation, and Postaxial Polydactyly
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: http://www.ncbi.nlm.nih.gov/omim/.
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: http://www.ncbi.nlm.nih.gov/omim/.
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