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  • Title: Megalocornea-mental retardation syndrome: report of a new case.
    Author: Barisić I, Ligutić I, Zergollern L.
    Journal: J Med Genet; 1996 Oct; 33(10):882-3. PubMed ID: 8933347.
    Abstract:
    Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.
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