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The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood.<\/jats:p><jats:p>We conclude that this is a distinct, previously unrecognized X\u2010linked mental retardation syndrome. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450527","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:48:59Z","timestamp":1118508539000},"page":"654-658","source":"Crossref","is-referenced-by-count":35,"title":["New X\u2010linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early 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