BBS1 - Gene browser

BBS1

Bardet-Biedl syndrome 1

HCNC Approved Symbol: BBS1 (HGNC:966)
Genomic Coordinates: 11:66,510,635 - 66,533,598 (11q13.2)
Synonyms: FLJ23590
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the BBS1 gene.

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

014
Patient count

Visual impairment: 5 (35.7%)
Patient Count: 5 (35.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (35.7%)
Polydactyly, postaxial: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Retinitis pigmentosa: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Ird: 3 (21.4%)
Patient Count: 3 (21.4%)
% of total patients presenting each phenotype is shown in parentheses.
3 (21.4%)
Foot polydactyly: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)