CDH23 - Gene browser

CDH23

cadherin related 23

HCNC Approved Symbol: CDH23 (HGNC:13733)
Genomic Coordinates: 10:71,396,920 - 71,815,947 (10q22.1)
Synonyms: CDHR23, DFNB12, USH1D
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

98Patients

In total, 98 patients were diagnosed with a variant in the CDH23 gene.

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

098
Patient count

Hearing loss: 49 (50.0%)
Patient Count: 49 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
49 (50.0%)
Hearing impairment: 18 (18.4%)
Patient Count: 18 (18.4%)
% of total patients presenting each phenotype is shown in parentheses.
18 (18.4%)
Delayed speech and language development: 5 (5.1%)
Patient Count: 5 (5.1%)
% of total patients presenting each phenotype is shown in parentheses.
5 (5.1%)
Speech delay: 5 (5.1%)
Patient Count: 5 (5.1%)
% of total patients presenting each phenotype is shown in parentheses.
5 (5.1%)
Congenital hearing loss: 4 (4.1%)
Patient Count: 4 (4.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (4.1%)