HPDL - Gene browser

HPDL

4-hydroxyphenylpyruvate dioxygenase like

HCNC Approved Symbol: HPDL (HGNC:28242)
Genomic Coordinates: 1:45,326,895 - 45,328,710 (1p34.1)
Synonyms: MGC15668, 4-HPPD-L, GLOXD1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the HPDL gene.

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

06
Patient count

Seizures: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Delayed language development: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Delayed walking: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Muscle wasting: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Muscle weakness: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)