B4GALNT1 - Gene browser

B4GALNT1

beta-1,4-N-acetyl-galactosaminyltransferase 1

HCNC Approved Symbol: B4GALNT1 (HGNC:4117)
Genomic Coordinates: 12:57,623,409 - 57,633,201 (12q13.3)
Synonyms: beta1-4GalNAc-T, GALGT, SPG26
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the B4GALNT1 gene.

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

03
Patient count

Distal muscle weakness: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Distal muscle weakness due to peripheral neuropathy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Hypoesthesia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Peripheral neuropathy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Sensory impairment: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)