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Megalocornea-mental retardation syndrome: report of a new case
I Barisić1, I Ligutić, L Zergollern
1Department of Medical Genetics, Children's Hospital Zagreb, Croatia.
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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