B3GALT6 - Gene browser

B3GALT6

beta-1,3-galactosyltransferase 6

HCNC Approved Symbol: B3GALT6 (HGNC:17978)
Genomic Coordinates: 1:1,232,237 - 1,235,041 (1p36.33)
Synonyms: beta3GalT6
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the B3GALT6 gene.

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

04
Patient count

Midface hypoplasia: 3 (75.0%)
Patient Count: 3 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (75.0%)
Flat vertebral bodies: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Flexion contractures (pip joints): 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Long philtrum: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Prominent forehead: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)