OTOF - Gene browser

OTOF

otoferlin

HCNC Approved Symbol: OTOF (HGNC:8515)
Genomic Coordinates: 2:26,457,203 - 26,558,756 (2p23.3)
Synonyms: FER1L2, DFNB6, DFNB9
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

37Patients

In total, 37 patients were diagnosed with a variant in the OTOF gene.

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

037
Patient count

Hearing impairment: 20 (54.1%)
Patient Count: 20 (54.1%)
% of total patients presenting each phenotype is shown in parentheses.
20 (54.1%)
Hearing loss: 12 (32.4%)
Patient Count: 12 (32.4%)
% of total patients presenting each phenotype is shown in parentheses.
12 (32.4%)
Ear pain: 3 (8.1%)
Patient Count: 3 (8.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (8.1%)
Abnormal cerebral white matter morphology: 2 (5.4%)
Patient Count: 2 (5.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (5.4%)
Attention deficit: 2 (5.4%)
Patient Count: 2 (5.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (5.4%)