NCIt related terms : Cerebral Gigantism Syndrome; Sotos' Syndrome;
NCIt definition : An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the
NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase,
and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately
large and long head with a slightly prominent forehead and pointed chin, hypertelorism,
down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental
delay.;