DDX3X syndrome is a genetic disorder that affects predominantly females. Patients with DDX3X syndrome may develop

developmental delay The term developmental delay can refer to: *Global developmental delay, an umbrella term used when children are significantly delayed in two or more areas of development *Specific developmental disorder, a classification of disorders characterize ...

intellectual disability Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...

autism Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing d ...

ADHD Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by symptoms of inattention, hyperactivity, impulsivity, and emotional dysregulation that are excessive and pervasive, impairing in multiple ...

, and low muscle tone. The syndrome develops due to mutations of the

DDX3X ATP-dependent RNA helicase DDX3X is an enzyme that in humans is encoded by the ''DDX3X'' gene. Function DEAD box proteins are putative RNA helicases characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD). They are implicated in a numb ...

gene located on the

X chromosome The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its u ...

, and the clinical picture varies depending on the specific mutation.

History

The syndrome was first described in a study published in 2015.

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, but this may be an approximate early estimate.

Alternative names

* X-linked mental retardation 102

Figures

Facial features of children with DDX3X syndrome

External links

Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type
- a record in

OMIM Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM ...

References

Genetic syndromes X-linked dominant disorders X-linked recessive disorders Syndromes with ADHD {{genetic-disorder-stub