LOXHD1 - Gene browser

LOXHD1

lipoxygenase homology PLAT domains 1

HCNC Approved Symbol: LOXHD1 (HGNC:26521)
Genomic Coordinates: 18:46,476,961 - 46,657,220 (18q21.1)
Synonyms: FLJ32670, LH2D1, DFNB77
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

21Patients

In total, 21 patients were diagnosed with a variant in the LOXHD1 gene.

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

021
Patient count

Hearing loss: 12 (57.1%)
Patient Count: 12 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
12 (57.1%)
Abnormal heart morphology: 2 (9.5%)
Patient Count: 2 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.5%)
Hemivertebrae: 2 (9.5%)
Patient Count: 2 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.5%)
Perimembraneous ventricular septal defect: 2 (9.5%)
Patient Count: 2 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.5%)
Ventricular septal defect: 2 (9.5%)
Patient Count: 2 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.5%)