Article

Prospective and detailed behavioral phenotyping in DDX3X syndrome

2021-01-29

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> DDX3X syndrome is a recently identified genetic disorder that accounts for 1-3% of cases of unexplained developmental delay (DD) and/or intellectual disability (ID) in females and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characterization of this syndrome has primarily relied on medical record review; in...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9b30bdf5-24d6-5f16-9a7d-e4b21e31cb54
DOI: 10.1101/2021.01.26.21250125

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Prospective and detailed behavioral phenotyping in DDX3X syndromeDOI 10.1101/2021.01.26.21250125Read

Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site DDX3X Variant: A Case Report of a Rare Clinical SyndromeSemantic proximity Read

Comprehensive phenotyping of 3q29 deletion syndrome: recommendations for clinical careSemantic proximity Read

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.Semantic proximity Read

Phenotypic expansion in <i>DDX3X</i> – a common cause of intellectual disability in femalesSemantic proximity Read

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.Semantic proximity Read

DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.Semantic proximity Read

DDX3X syndrome: From clinical phenotypes to biological insights.Semantic proximity Read

DDX3X syndrome: a multicenter genotype-phenotype studySemantic proximity Read

Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndromeSemantic proximity Read

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.Semantic proximity Read

Developmental and behavioral phenotypes in a new mouse model of DDX3X syndromeSemantic proximity Read

Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concernsSemantic proximity Read