BBS7 - Gene browser

BBS7

Bardet-Biedl syndrome 7

HCNC Approved Symbol: BBS7 (HGNC:18758)
Genomic Coordinates: 4:121,824,329 - 121,870,474 (4q27)
Synonyms: FLJ10715, BBS2L1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

16Patients

In total, 16 patients were diagnosed with a variant in the BBS7 gene.

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

016
Patient count

Hand polydactyly: 6 (37.5%)
Patient Count: 6 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
6 (37.5%)
Obesity: 6 (37.5%)
Patient Count: 6 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
6 (37.5%)
Patent ductus arteriosus: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Polycystic kidney dysplasia: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Polydactyly, postaxial: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)