" /> Pallister-Killian Syndrome - CISMeF





Preferred Label : Pallister-Killian Syndrome;

NCIt synonyms : Pallister Killian Syndrome;

NCIt definition : A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin.;

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31/07/2025


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