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  • Title: New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria.
    Author: Zollino M, Mastroiacovo P, Zampino G, Mariotti P, Neri G.
    Journal: Am J Med Genet; ; 43(1-2):452-7. PubMed ID: 1605225.
    Abstract:
    A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.
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