Sotos Syndrome

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131004

true

C131004

Retired_Concept

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.

true

Thu Feb 23 10:46:41 EST 2017 - See 'Sotos_Syndrome(C75019)'

Sotos Syndrome

Sotos Syndrome

Syndrome

Sotos Syndrome

Thesaurus:C131004

Sotos Syndrome

Disease or Syndrome

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C143136