DDX3X Syndrome accounts for an estimated 1-3% of intellectual disabilities in females. 1013 known cases across 56 countries. 385 children currently in the patient registry. Raised over $1.6M. Awarded over $800,000 in research grants. Hosted 10 …

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.

ATP-dependent RNA helicase DDX3X is an enzyme that in humans is encoded by the DDX3X gene. [5][6][7] DEAD box proteins are putative RNA helicases characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD).

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.

2024年12月24日 · DDX3X (DEAD-Box Helicase 3 X-Linked) is a Protein Coding gene. Diseases associated with DDX3X include Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type and X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome. Among its related pathways are Innate Immune System and Toll-like receptor signaling pathway.

2020年8月27日 · DDX3X -related neurodevelopmental disorder (DDX3X -NDD) typically occurs in females and very rarely in males. All affected individuals reported to date have developmental delay / intellectual disability ranging from mild to severe; about 50% of affected girls remain nonverbal after age five years.

DDX3X-related neurodevelopmental disorder (DDX3X-NDD) typically occurs in females and very rarely in males. All afected individuals reported to date have developmental delay / intellectual disability (ID) ranging from mild to severe; about 50% of …

If you or your child is affected by DDX3X Syndrome, you can help advance research by participating in the DDX3X Registry. Your data can help find better treatments and a cure. Why Register? Copyright © 2022 DDX3X Foundation. All Rights Reserved. DDX3X Foundation Registry is an initiative of DDX3X Foundation.

DDX3X関連神経発達異常症は、RNA代謝と神経細胞の発達に重要な役割を持つDDX3X遺伝子内の自然変異によって引き起こされる希少疾患である。 つまり、両親のどちらかが何をしたわけでもないにもかかわらず、子供が発症する可能性があるということである。 この症候群は2014年に米国で初めて発見され、X染色体上に位置するため主に女児に発症するが、男児にも発症した例がある。 現在のところ世界で診断が確認されているのは約1000人だが、女性の知的障害 …

What is DDX3X syndrome and how is it caused? DDX3X syndrome is a genetic condition that occurs in females, and very rarely in males with developmental delay and/or intellectual disability. The first individuals with this condition were reported in 2015.