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Article

CLCN4 -Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities.

American journal of medical genetics. Part A - 1 Dec 2025

Garrett Alexandra, Kalscheuer Vera M, Figueroa Rebeca Ridings, Palmer Elizabeth E, Morgan Angela T

Abstract excerpt

Speech and language difficulties are a core feature of the CLCN4-related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months-41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon maternal inheritance). Speech, language, and augmentative and...

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Identifiers

PMID: 40762462
DOI: 10.1002/ajmg.a.64192

Genes

CLCN4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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