Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism
General: Autosomal recessive; rare; reported in isolated Norwegian village.
Ocular: Infantile cataract.
Clinical: Ovarian agenesis in females; Klinefelter syndrome in males; congenital muscular dystrophy.
Bassoe HH. Familial congenital muscular dystrophy with gonadal dysgenesis. J Clin Endocrinol 1956; 16:1614-l621.
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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