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ENPallister-Killian Syndrome (PKS)
Alias:
Isochromosome 12p Syndrome
Isochromosome 12p Mosaicism
Tetrasomy 12p, Mosaic
Tetrasomy 12p
Pks
Pallister-Killian Mosaic Syndrome
Teschler-Nicola/killian Syndrome
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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
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MALACARDS
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