GLB1 - Gene browser

GLB1

galactosidase beta 1

HCNC Approved Symbol: GLB1 (HGNC:4298)
Genomic Coordinates: 3:32,961,108 - 33,097,146 (3p22.3)
Synonyms: EBP, ELNR1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

18Patients

In total, 18 patients were diagnosed with a variant in the GLB1 gene.

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

018
Patient count

Speech delay: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Delayed myelination: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)
Developmental delay: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)
Developmental regression: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)
Spasticity: 3 (16.7%)
Patient Count: 3 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (16.7%)