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Article

IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.

European journal of medical genetics - 1 Jan 2012

Youngs Erin L, Henkhaus Rebecca, Hellings Jessica A, Butler Merlin G

Abstract excerpt

Intellectual disability affects approximately 2% of the population with males outnumbering females due to involvement of over 300 genes on the X chromosome. The most common form of X-linked intellectual disability (XLID) is fragile X syndrome. We report a family with an apparent XLID pattern with the proband, his mother and maternal half brother having an Xp21.3 deletion detected with chromosomal microarray...

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Share to X-Linked Intellectual Disability
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

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Source

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Identifiers

PMID: 21933724
DOI: 10.1016/j.ejmg.2011.08.004
PMCID: PMC5438265

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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