EDNRB

EDNRB

endothelin receptor type B

HCNC Approved Symbol: EDNRB (HGNC:3180)
Genomic Coordinates: 13:77,895,481 - 77,975,527 (13q22.3)
Synonyms: ETB, HSCR2, HSCR
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the EDNRB gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Prelingual sensorineural hearing impairment: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Dystopia canthorum: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Heterochromia iridis: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Profound hearing impairment: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30