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Article

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.

European journal of medical genetics - 1 Sept 2014

Courage Carolina, Houge Gunnar, Gallati Sabina, Schjelderup Jack, Rieubland Claudine

Abstract excerpt

We report two patients with microdeletions in chromosomal subdomain 15q26.1 encompassing only two genes, CHD2 and RGMA. Both patients present a distinct phenotype with intellectual disability, epilepsy, behavioral issues, truncal obesity, scoliosis and facial dysmorphism. CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with...

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Source

Identifiers

PMID: 24932903
DOI: 10.1016/j.ejmg.2014.06.003

Genes

CHD2
RGMA

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.

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