Aarskog syndrome


What gene change causes Aarskog syndrome?

Harmful changes (mutations) in the FGD1 gene are known to cause Aarskog syndrome. FGD1 stands for faciogenital dysplasia 1 gene. This is located on the X chromosome (one of the sex chromosomes). The exact location of the FGD1 gene is chromosome Xp11.21. There may be other genetic causes of Aarskog syndrome that are still unknown.

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