BBS4 - Gene browser | 3billion

BBS4

BBS4

Bardet-Biedl syndrome 4

HCNC Approved Symbol: BBS4 (HGNC:969)
Genomic Coordinates: 15:72,686,207 - 72,738,473 (15q24.1)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the BBS4 gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Retinal dystrophy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Cone rod dystrophy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30

BBS4 - Gene browser | 3billion