Pallister-Killian Syndrome (PKS)

Pallister-Killian Syndrome, also known as isochromosome 12p syndrome, is related to diaphragmatic hernia, congenital and hypotonia, and has symptoms including seizures An important gene associated with Pallister-Killian Syndrome is ARAF (A-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include skin and heart, and related phenotypes are ptosis and short neck