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Article

Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Mar 2010

Verhoeven Willem M A, Kleefstra Tjitske, Egger Jos I M

Abstract excerpt

The 9q Subtelomeric Deletion Syndrome (9qSTDS) is clinically characterized by mental retardation, childhood hypotonia, and facial dysmorphisms. Haploinsufficiency of the EHMT1 gene has been demonstrated to be responsible for its core phenotype. In a significant number of patients behavioral abnormalities like aggression, impulsivity, and chaotic behaviors are present as well as epileptic phenomena. Reports about...

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Source

Identifiers

PMID: 19642112
DOI: 10.1002/ajmg.b.31015

Genes

EHMT1

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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.

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