Optic Atrophy, Non-Leber-Type, with Early Onset
General: Sex-linked; onset early in life. 434c28e
Ocular: Optic atrophy.
Clinical: Mental retardation; hyperactive knee jerks; absent ankle jerks, extensor tar reflexes; dysarthria; tremor; dysdiadochokinesia; difficulty with tandem gait.
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/.
Volker-Dieben HJ, et al. A family with sex-linked optic atrophy (ophthalmological and neurological aspects). Doc Ophthalmol 1974; 37:307-326.
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