OTX2 - Gene browser

OTX2

orthodenticle homeobox 2

HCNC Approved Symbol: OTX2 (HGNC:8522)
Genomic Coordinates: 14:56,799,905 - 56,810,479 (14q22.3)
Synonyms
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the OTX2 gene.

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

05
Patient count

Coloboma of retina: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Eye abnormalities: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Microphthalmia: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Visual impairment: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
True anophthalmia: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)