DDX3X syndrome is caused by a spontaneous mutation at conception. Due to its location on the X-chromosome, it primarily affects girls, though there are affected boys. Doctors believe it is the cause of 1 to 3 percent of all intellectual disabilities in females. DDX3X syndrome is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, difficulties with speech, and slower physical developments. To learn more, visit ddx3x.org.
Hi Jamie, I hope that we can get a formal diagnosis code for insurance billing. It's been a rough 20 years trying to explain Elisabeth's global delays and what we think caused them. We suspected a mutation because there were other organs that developed just fine. But to finally have it identified is such a relief. Hope we can make to Philly. Kind regards, Donna
ReplyDeleteHello. My daughter Lexie is 6, we just got the diagnosis of this, and as you know I’m scrambling to find information. We haven’t green a gene counselor yet. Please feel free to email me as I’m trying to know more information on ddx3x
ReplyDeleteSeen, not green lol
DeleteHallo ja Daugther Clara Lina have also this Diagnose DDX3X become seince 2012.We live in Germany and i looking for Parents they have also a Children whith this Diagnose.
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