Sotos syndrome

MONDO:0019349

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Also known as: NSD1 Sotos syndrome, Sotos syndrome, Sotos syndrome 1, Sotos syndrome caused by mutation in NSD1, Sotos syndrome type 1, Sotos' syndrome, cerebral gigantism, cerebral gigantism syndrome

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