ITPA - Gene browser

ITPA

inosine triphosphatase

HCNC Approved Symbol: ITPA (HGNC:6176)
Genomic Coordinates: 20:3,204,065 - 3,227,449 (20p13)
Synonyms: HLC14-06-P, dJ794I6.3, C20orf37
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the ITPA gene.

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

04
Patient count

Microcephaly: 4 (100.0%)
Patient Count: 4 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (100.0%)
Axial hypotonia: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Focal seizures: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Global development delay: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Global developmental delay, severe: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)