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Kabuki Syndrome on PFOND

Kabuki Syndrome (KS) is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome that involves multiple body systems. It is characterized by mild to moderate intellectual disability, peculiar, characteristic face, growth retardation, skeletal and cardiac abnormalities, as well as immunological anomalies.

KS is a genetic syndrome caused by a spectrum of mutations. Most cases are the result of sporadic or "de novo" mutations, in which certain cells in the body developed mutations, resulting in the combination of clinical features seen in KS.