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ENShashi-Pena Syndrome (SHAPNS)
Alias:
Shapns
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Shashi-Pena Syndrome, also known as shapns, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and glucose intolerance. An important gene associated with Shashi-Pena Syndrome is ASXL2 (ASXL Transcriptional Regulator 2). Affiliated tissues include bone and brain, and related phenotypes are macrocephaly and hypotonia
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MALACARDS
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