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Article

CHL1 deletion is associated with cognitive and language disabilities - Case report and review of literature.

Molecular genetics & genomic medicine - 1 Jul 2021

Tsuboyama Melissa, Iqbal Mohammed Anwar

Abstract excerpt

BACKGROUND: There is a small, but growing number of reports of pediatric patients with terminal deletions at 3p26.3 involving only the cell adhesion molecule L1-like (CHL1) gene that has been found to have language delays and intellectual disability. Here we report a one month of age patient who developed seizures and tone abnormalities, with persistent and prominent gross and fine motor delays. The patient has...

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Identifiers

PMID: 34056867
DOI: 10.1002/mgg3.1725
PMCID: PMC8372067

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.

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