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Diseases

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Congenital cataract and hypertrophic cardiomyopathy syndrome   275


Congenital Cataract and Hypertrophic Cardiomyopathy Syndrome     949j91j ;     949j91j ;     949j91j ;     949j91j ;     949j91j ;     949j91j ;     949j91j ;     949j91j ;     949j91j ;     949j91j ;     949j91j ;     949j91j ;   275

General: Autosomal recessive; characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy of voluntary muscles, and exercise-related lactic acidosis.

Ocular: Cataract; hyperplastic primary vitreous; aniridia; iris colobomas; microphthalmos; nystagmus; strabismus; myopia; keratoconus.



Clinical: Pulmonary stenosis; ventricular septal defects; structurally abnormal mito-chondria.

Cruysberg JRM, et al. Features of syndrome with congenital cataract and hypertrophic cardiomyopathy. Am J Ophthalmol 1986; 102:740-749.

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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