Simpson–Golabi–Behmel syndrome

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An X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other congenital abnormalities; phenotypically similar to Beckwith–Wiedemann syndrome. Type I is caused by mutation in the glycipan-3 gene, probably reducing the extent to which insulin-like growth factor 2 is bound and unavailable for growth stimulation. Type 2 has been associated with a mutation in the CXORF5 gene, an open reading frame on the X chromosome.

Subjects: Medicine and Health.

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