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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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050773 | PMC |
| http://dx.doi.org/10.1136/jmg.33.10.882 | DOI Listing |
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