Guo et al. (2006) reported a large 4-generation Chinese family with 6 males affected by congenital cataracts, cerebellar ataxia, short stature, and mental retardation and with 8 females affected by cataracts alone. The 4 affected males who were ... Guo et al. (2006) reported a large 4-generation Chinese family with 6 males affected by congenital cataracts, cerebellar ataxia, short stature, and mental retardation and with 8 females affected by cataracts alone. The 4 affected males who were examined had total opacification of the lens but normal cornea, anterior chamber, and iris; they were much shorter than their unaffected sibs or parents. Neurologic evaluation revealed mild to moderate mental retardation, muscle hypotonia and weakness, dysarthria, and postural tremor. Their stances were broad based, and they were unable to sit or stand without support. Affected females reported blurred vision starting in childhood or teenage years. Examination revealed either cortical punctate or pulverulent opacities and posterior subcapsular opacities of the lens, with normal cornea, anterior chamber, iris, and pupils; the fundus, when visible, was normal. All affected females had normal stature and normal psychomotor development. The pedigree was consistent with an X-linked trait partially penetrant in female carriers.