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Article

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

American journal of medical genetics. Part A - 1 Mar 2010

Rodriguez Jayson D, Bhat Shambhu S, Meloni Ilaria, Ladd Sydney, Leslie Nancy D, Doyne Emanuel O, Renieri Alessandra, Dupont Barbara R, Stevenson Roger E, Schwartz Charles E, Srivastava Anand K

Abstract excerpt

Alport syndrome with intellectual disability (ID) is a contiguous gene deletion syndrome involving several genes on Xq22.3 including COL4A5 and ACSL4. We report on a family with two males with this disorder and a Xq22.3 deletion. Fluorescent in situ hybridization and genomic analyses mapped the d...

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Source

Identifiers

PMID: 20186809
DOI: 10.1002/ajmg.a.33208

Genes

ACSL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20186809-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.PMID 20186809Read ↗

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Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?Semantic proximity Read ↗

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Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.Semantic proximity Read ↗

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