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

Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2010

Graham John M, Clark Robin D, Moeschler John B, Rogers R Curtis

Abstract excerpt

Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilkd 117:1-18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus, and hypotonia. Risheg et al. [Risheg et al. (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man...

Read the complete abstract on PubMed

Topics

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

Share to Impulsive Behavior
Share to Agenesis of Corpus Callosum

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Anus, Imperforate

Share to Behavior

Share to Constipation

Share to Mediator Complex

Share to Self-Injurious Behavior

Share to X-Linked Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 20981778
DOI: 10.1002/ajmg.c.30284
PMCID: PMC2967396

Genes

MED12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).PMID 20981778Read ↗

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.Semantic proximity Read ↗

Behavioral pattern profile: a tool for the description of behavior to be used in the genetics clinic.Semantic proximity Read ↗

KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New PatientsSemantic proximity Read ↗

The behavioral phenotype of Mowat-Wilson syndrome.Semantic proximity Read ↗

Irritability in pediatric mania and other childhood psychopathology.Semantic proximity Read ↗

Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome.Semantic proximity Read ↗

The FG syndrome: report of a large Italian series.Semantic proximity Read ↗

The social behavioral phenotype of Kabuki syndrome.Semantic proximity Read ↗

Another adult with Meier-Gorlin syndrome--insights into the natural history.Semantic proximity Read ↗

Giggle incontinence in children: a manifestation of detrusor instability.Semantic proximity Read ↗

Hypersexuality, Paraphilic Behaviors, and Gender Dysphoria in Individuals with Klinefelter's Syndrome.Semantic proximity Read ↗

Three young children with Smith-Magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms.Semantic proximity Read ↗

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