Spastic Quadriplegia, Retinitis Pigmentosa, Mental Retardation 1
General: Autosomal recessive; consa 151b11b nguineous parents.
Ocular: Granular pigmented retina; pale optic disk; retinal degeneration; exotropia; miotic pupils; ptosis; nystagmus; small optic disk; retinitis pigmentosa.
Clinical: Expressionless face; drooling; spastic contractures; scissoring; spastic gait; mental retardation; brachydactyly; hypoplasia; tremors; hearing impairment.
Gordon AM, et al. Progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss: report of two siblings. Johns Hopkins Med J 1976; 138:142-l45.
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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