GALC - Gene browser

GALC

galactosylceramidase

HCNC Approved Symbol: GALC (HGNC:4115)
Genomic Coordinates: 14:87,933,014 - 87,993,667 (14q31.3)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

34Patients

In total, 34 patients were diagnosed with a variant in the GALC gene.

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

034
Patient count

Seizures: 7 (20.6%)
Patient Count: 7 (20.6%)
% of total patients presenting each phenotype is shown in parentheses.
7 (20.6%)
Leukodystrophy: 5 (14.7%)
Patient Count: 5 (14.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (14.7%)
Global developmental delay: 4 (11.8%)
Patient Count: 4 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (11.8%)
Hypotonia: 4 (11.8%)
Patient Count: 4 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (11.8%)
Reduced galactocerebrosidase activity: 4 (11.8%)
Patient Count: 4 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (11.8%)