tetrasomy 12p
Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0016933
partial trisomy/tetrasomy of the short arm of chromosome 12
is_a
MONDO:0019716
overgrowth syndrome
is_a
Isochromosome 12p mosaicism
exact
Isochromosome 12p syndrome
exact
Killian Teschler-Nicola syndrome
related
Killian syndrome
related
PKS
related
Pallister Killian Mosaic Syndrome
exact
Pallister Killian syndrome
related
Pallister mosaic syndrome
related
Pallister-Killian mosaic syndrome
related
Pallister-Killian syndrome
exact
Pallister-Killian syndrome, Somatic mosaicism
exact
Teschler-Nicola Killian syndrome
related
chromosome 12, Isochromosome 12p syndrome
related
tetrasomy type 12p
exact