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ENPaganini-Miozzo Syndrome (MRXSPM)
Alias:
Mrxspm
Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type
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Paganini-Miozzo Syndrome, also known as mrxspm, is related to ventricular septal defect and heart septal defect. An important gene associated with Paganini-Miozzo Syndrome is HS6ST2 (Heparan Sulfate 6-O-Sulfotransferase 2). Affiliated tissues include eye, and related phenotypes are global developmental delay and mandibular prognathia
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MALACARDS
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