FOXL2 - Gene browser

FOXL2

forkhead box L2

HCNC Approved Symbol: FOXL2 (HGNC:1092)
Genomic Coordinates: 3:138,944,224 - 138,947,137 (3q22.3)
Synonyms: BPES1, BPES
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the FOXL2 gene.

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

09
Patient count

Blepharophimosis: 8 (88.9%)
Patient Count: 8 (88.9%)
% of total patients presenting each phenotype is shown in parentheses.
8 (88.9%)
Amenorrhea: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Microphthalmia: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Flat face: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Full cheeks: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)