engleski

Megalocornea mental retardation syndrome: Report of a new case

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.

megalocornea ; mental retardation ; Neu-häuser syndrome

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