About DDx3x
DDX3X Syndrome is a rare disease caused by a spontaneous mutation within the DDX3X gene at conception or can be inherited. The syndrome was discovered in the United States in 2014 and primarily affects girls due to its location on the X-chromosome, though there are some boys it has affected as well. Although it has only been identified in about over 1000 individuals, doctors believe it is the cause of 1 to 3 percent of all intellectual disabilities in females.
DDX3X Syndrome is often misdiagnosed as autism spectrum disorder, cerebral palsy, Rett Syndrome, Dandy-Walker Syndrome, or a generic developmentally delayed label. It is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical developments. It has a broad spectrum—some individuals develop the ability to speak in full sentences, while others are nonverbal. Some individuals run, jump, and even ski, while others are unable to walk.
A simple and comprehensive summary of DDX3X Syndrome is available in this document from RareChromo.org. For more information read the DDX3X Manuscript.
Not all individuals with DDX3X Syndrome are affected in the same ways, however, the following are common symptoms:
- Intellectual disability
- Developmental delays
- Low muscle tone/hypotonia
- Difficulty with speech
- Epilepsy/seizures
- Movement disorders
- Abnormalities of the brain
- Microcephaly
Learn more about our Foundation, including the work we do to support those affected by DDX3X Syndrome and those researching it.
