CLCN3 - Gene browser

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.

10Patients

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

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

010
Patient count

Speech delay: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Global development delay: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Intellectual disability: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Motor delay: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Short stature: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)