Microcephaly with Chorioretinopathy 646h77g 646h77g 646h77g 646h77g 646h77g
General: Autosomal dominant; congenital infection; exposure to irradiation, chemical agents, mother's infection, or injury.
Ocular: Chorioretinopathy usually inactive.
Clinical: Microcephaly; slow growth of brain; mild mental retardation.
Fanconi R, et al. Chorio-retinal dysplasia, microcephaly and mental retardation: an autosomal dominant syndrome. Clin Genet 1981; 20:347-351.
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/.
Sadler LS, Robinson LK. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family. Am J Med Genet 1993; 47:65-68.
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