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Here we systematically phenotype speech and language in 13 participants (10 female, aged 1\u2009year 10\u2009months\u201341\u2009years 10\u2009months) with pathogenic\n                    <jats:italic>CLCN4<\/jats:italic>\n                    variants (12 missense de novo, 1 premature stop codon maternal inheritance). Speech, language, and augmentative and alternative communication (AAC) methods were examined. Expressive and receptive language conditions were highly penetrant (12\/13, 92%). Eight participants were minimally verbal but used a range of low (e.g., gesture) and high\u2010tech (e.g., device) methods to communicate. Verbal participants had both apraxia and dysarthria, characterized by inconsistent productions, sound distortions, resonance changes, and persistent voice quality and prosodic errors. Participants were all intentional communicators, being motivated to get their message across. A discrepancy was present, however, between the ability to express basic needs versus demonstrate social skills or social exchanges. Data highlight the potential for the implementation of tailored AAC to enhance functional social participation and extend language abilities. Communication difficulties are pervasive in\n                    <jats:italic>CLCN4\u2010<\/jats:italic>\n                    related neurodevelopmental condition. Data emphasize the importance of individualized and timely speech therapy, and particularly the introduction of AAC to optimize language growth.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64192","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T12:48:57Z","timestamp":1754398137000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>\n                      <i>CLCN4<\/i>\n                    <\/scp>\n                    \u2010Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-0024-7570","authenticated-orcid":false,"given":"Alexandra","family":"Garrett","sequence":"first","affiliation":[{"name":"Speech &amp; Language Murdoch Children's Institute  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera M.","family":"Kalscheuer","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Molecular Genetics, Group Development and Disease  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebeca Ridings","family":"Figueroa","sequence":"additional","affiliation":[{"name":"Cure CLCN4  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1844-215X","authenticated-orcid":false,"given":"Elizabeth E.","family":"Palmer","sequence":"additional","affiliation":[{"name":"Centre for Clinical Genetics Sydney Children's Hospital Network  Randwick Australia"},{"name":"Discipline of Paediatrics and Child Health, Faculty of Medicine and Health University of New South Wales  Randwick Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1147-7405","authenticated-orcid":false,"given":"Angela T.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Speech &amp; Language Murdoch Children's Institute  Melbourne Australia"},{"name":"Department of Paediatrics University of Melbourne  Parkville Australia"},{"name":"Royal Children's Hospital  Melbourne Australia"},{"name":"Victorian Clinical Genetics Service  Melbourne Australia"},{"name":"Department of Audiology, and Speech Pathology University of Melbourne  Parkville Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,5]]},"reference":[{"key":"e_1_2_12_2_1","unstructured":"AAC.2025.Augmentative and Alternative Communication (AAC).https:\/\/www.asha.org\/practice\u2010portal\/professional\u2010issues\/augmentative\u2010and\u2010alternative\u2010communication\/?srsltid=AfmBOopT1bN9b5RM2N4jzL2y6BHK9K3xulEhvNKO06uWBZHBhezm_WXJ."},{"key":"e_1_2_12_3_1","unstructured":"Adam M. P. G. M.Mirzaa andR. A.Pagon.2021.CLCN4\u2010Related Neurodevelopmental Disorder."},{"key":"e_1_2_12_4_1","unstructured":"American Speech\u2010Language\u2010Hearing Association.2025.Childhood Apraxia of Speech.https:\/\/www.asha.org\/practice\u2010portal\/clinical\u2010topics\/childhood\u2010apraxia\u2010of\u2010speech\/?srsltid=AfmBOorvMvkZt7JpvrHwNCKXOoO2mCpX31BA5bOftiAE\u2010PKeP\u20104gp2Un."},{"key":"e_1_2_12_5_1","first-page":"686","volume-title":"Augmentative & Alternative Communication: Supporting Children and Adults With Complex Communication Needs","author":"Beukelman D. 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