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  • Title: New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.
    Author: Gustavson KH, Annerén G, Malmgren H, Dahl N, Ljunggren CG, Bäckman H.
    Journal: Am J Med Genet; 1993 Mar 01; 45(5):654-8. PubMed ID: 8456840.
    Abstract:
    A family with an X-linked mental retardation syndrome involving seven children in two generations is reported. 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. We conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
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