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Hallgren syndrome (retinitis pigmentosa-deafness-ataxia syndrome; usher syndrome type i) 5


Hallgren Syndrome (Retinitis Pigmentosa-Deafness-Ataxia Syndrome; Usher Syndrome Type I) 5

General: Autosomal recessive inheritance.

Ocular: Horizontal nystagmus (10%); cataract; retinitis pigmentosa; 454d39e retinal atrophy; narrow retinal vessels; optic atrophy; keratoconus.

Clinical: Congenital deafness (complete or at least severe auditory impairment); mental deficiency (25%); vestibulocerebellar ataxia (90%); schizophrenia-like symptoms (25%).

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Hallgren B. Retinitis pigmentosa combined with congenital deafness with vestibulocerebellar ataxia and neural abnormality in a proportion of cases: a Clinical and geneticostatistical study. Acta Psychiatr Scand Suppl 1959-l960; 138:1-l01.

Ka J, et al. Probable location of Usher type I gene on chromosome 14q by linkage with D14S13 (MLJ14 probe). Cytogenet Cell Genet 1991; 58:1988(abst).

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/.

Nuutila A. Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a study of the Usher and Hallgren syndromes. J Genet Hum 1970; 18:57.




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