Table 2.

Features in Affected Males and Heterozygous Females with CLCN4 Variants

FeatureHemizygous
Males (n=36)		Heterozygous Females
De novo
variant (n=5)		Inherited
variant (n=25)
Cognitive
function 		Borderline ID1/361/50/25
Mild ID9/360/51/25
Moderate ID9/362/50/25
Severe/profound ID17/362/52/25
Normal cognitive function0022/25
Epilepsy &
response to
medication 		Epilepsy22/362/51/25
Well controlled8/221/20
Drug resistant12/221/21/1
Data re seizure control NA2/22
Other Behavioral issues / Mental
health disorders		23/363/54/25
Infantile hypotonia11/363/51/25
Progressive neurologic
manifestations		8/361/52/25
Abnormal MRI findings14/18 tested2/4 tested2/2 tested
Significant GI involvement3/362/50/25
Scoliosis3/361/50/25

GI = gastrointestinal; ID = intellectual disability; NA = not available

From: CLCN4-Related Neurodevelopmental Disorder

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.