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Question - Kabuki syndrome

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I am looking for more information on the causes of Kabuki syndrome?

Researcher
Asked 5 years ago Louisa 150

I am looking for more information on the causes of Kabuki syndrome? Is it a genetic condition?

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It is a genetic condition. Kabuki syndrome is a genetic condition caused by mutations in the KMT2D and KDM6A genes. Recent research suggests that mutations in other genes may also cause the disorder. Kabuki syndrome is very rarely inherited and occurs spontaneously. But actually as you can see it is more often a new mutation, and not an inherited one that causes the disease.

Answered 5 years ago Micahel 31
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