PYGL - Gene browser

PYGL

glycogen phosphorylase L

HCNC Approved Symbol: PYGL (HGNC:9725)
Genomic Coordinates: 14:50,905,217 - 50,944,483 (14q22.1)
Synonyms: GSD6
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the PYGL gene.

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

08
Patient count

Hepatomegaly: 8 (100.0%)
Patient Count: 8 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
8 (100.0%)
Abnormal hepatic glycogen storage: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Failure to thrive: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Global developmental delay: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Lacrimal punctum stenosis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)