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CLCN3

chloride voltage-gated channel 3

HCNC Approved Symbol
CLCN3 (HGNC:2021)
Genomic Coordinates
4:169,620,578 - 169,723,673 (4q33)
Synonyms
CLC3, ClC-3
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Neurodevelopmental disorder with hypotonia and brain abnormalities
619512AD
Neurodevelopmental disorder with seizures and brain abnormalities
619517AR

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the CLCN3 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Speech delay
 3 (30.0%)
Global development delay
 2 (20.0%)
Intellectual disability
 2 (20.0%)
Motor delay
 2 (20.0%)
Short stature
 2 (20.0%)