Medicine:DDX3X syndrome
From HandWiki
Short description: Genetic disorder
DDX3X syndrome is a genetic disorder that affects predominantly females. Patients with DDX3X syndrome may develop developmental delay or intellectual disability, autism, ADHD, and low muscle tone. The syndrome develops due to mutations of the DDX3X gene located on the X chromosome, and the clinical picture varies depending on the specific mutation.
History
The syndrome was first described in a study published in 2015.[1]
Prevalence
According to studies performed up to 2022, DDX3X syndrome was presumed to account for 1-3% of cases of unexplained developmental delay and/or intellectual disability in females,[2] but this may be an approximate early estimate.
Alternative names
- X-linked mental retardation 102
Figures
Facial features of children with DDX3X syndrome, from Tang et al., 2021.[2]
External links
- Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type - a record in OMIM
References
- ↑ "Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling". American Journal of Human Genetics 97 (2): 343–52. August 2015. doi:10.1016/j.ajhg.2015.07.004. PMID 26235985.
- ↑ 2.0 2.1 "Prospective and detailed behavioral phenotyping in DDX3X syndrome". Molecular Autism 12 (1): 36. May 2021. doi:10.1186/s13229-021-00431-z. PMID 33993884.
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