Woody-Ghadimi Syndrome (Ghadimi-Woody Syndrome; Hyperlysinemia, Persistent) 1
General: Inherited probably autosomal domin 525b17f ant; affects both sexes; age of detection from infancy to early adulthood.
Ocular: Strabismus; ectopia lentis.
Clinical: Severe mental retardation; convulsions; laxity of joints; absence of secondary sex characteristics; hepatosplenomegaly; altered facial features.
Ghadimi H, et al. Hyperlysinemia associated with retardation. N Engl J Med 1965; 273:723-729.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
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/.
Woody NC. Hyperlysinemia. Proceedings of the American Pediatric Society VII Annual Meeting, Seattle, Washington, 1964:33(abst).
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