Retinopathy, Pigmentary, and Mental Retardation (Mirhosseini-Holmes-Walton Syndrome)
General: Autosomal recessive; this disorder may be the same as (or alleli) to Cohen 232j99c syndrome.
Ocular: Pigmentary retinal degeneration; cataract; keratoconus.
Clinical: Microcephaly; severe mental retardation; hyperextensible joints; scoliosis; arachnodactyly; hypogonadism.
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/.
Mendez HM, et al. The syndrome of retinal pigmentary degeneration, microcephaly and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients. Am J Med Genet 1985; 22:223-228.
Steinlein O, et al. Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome. Am J Med Genet 1991; 41:196-200.
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