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Megalocornea-mental retardation syndrome: report of a new case.

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.

SUBMITTER: Barisic I

PROVIDER: S-EPMC1050773 | biostudies-literature | 1996 Oct

REPOSITORIES: biostudies-literature

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Megalocornea-mental retardation syndrome: report of a new case.

Barisić I I Ligutić I I Zergollern L L

Journal of medical genetics 19961001 10

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. ...[more]

PMID: 8933347

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