Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Behavioural phenotype of SYNGAP1-related intellectual disability.

Journal of intellectual disability research : JIDR - 1 Sept 2024

Kranak M P, Rooker G, Smith-Hicks C

Abstract excerpt

BACKGROUND: SYNGAP1- related intellectual disability (SYNGAP1-ID) is a rare genetic disorder presenting with intellectual disability (ID), epilepsy, maladaptive behaviours and communication challenges. To date, few studies have assessed the context in which these maladaptive behaviours occur. This study aims to investigate the prevalence of problem behaviours, characterise the behavioural phenotype and use...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Autism Spectrum Disorder
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Intellectual Disability

Share to Phenotype

Share to ras GTPase-Activating Proteins

Share to Young Adult

Source

Identifiers

PMID: 38783394
DOI: 10.1111/jir.13145

Genes

SYNGAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Behavioural phenotype of SYNGAP1-related intellectual disability.PMID 38783394Read ↗

The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Semantic proximity Read ↗

Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder.Semantic proximity Read ↗

Behavioural and neurodevelopmental characteristics of SYNGAP1.Semantic proximity Read ↗

Social Behavioral Impairments in<i>SYNGAP1</i>-Related Intellectual DisabilitySemantic proximity Read ↗

The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis.Semantic proximity Read ↗

Deconstructing the repetitive behaviour phenotype in autism spectrum disorder through a large population-based analysis.Semantic proximity Read ↗

Association Between Motor Function and Higher-Order Repetitive Behaviors in Monogenic Autism Spectrum DisorderSemantic proximity Read ↗

Irritability in Children with Rasopathies, Insights into Emotional Dysregulation and Social Skills ImpairmentsSemantic proximity Read ↗

The social phenotype associated with Wiedemann-Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality.Semantic proximity Read ↗

Short report: relationship between restricted and repetitive behaviours in children with autism spectrum disorder and their parents.Semantic proximity Read ↗

Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.Semantic proximity Read ↗

Delineating the autistic phenotype in children with neurofibromatosis type 1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.