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ENProximal 16p11.2 Microdeletion Syndrome
Alias:
Proximal Monosomy 16p11.2
Proximal Del(16)(p11.2)
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Proximal 16p11.2 Microdeletion Syndrome, also known as proximal monosomy 16p11.2, is related to chromosome 16p11.2 deletion syndrome, 593-kb. An important gene associated with Proximal 16p11.2 Microdeletion Syndrome is SH2B1 (SH2B Adaptor Protein 1). Affiliated tissues include kidney and heart, and related phenotypes are global developmental delay and autistic behavior
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MALACARDS
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