PTPN23 - Gene browser

PTPN23

protein tyrosine phosphatase non-receptor type 23

HCNC Approved Symbol: PTPN23 (HGNC:14406)
Genomic Coordinates: 3:47,381,021 - 47,413,435 (3p21.31)
Synonyms: DKFZP564F0923, KIAA1471, HD-PTP
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

6Patients

In total, 6 patients were diagnosed with a variant in the PTPN23 gene.

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

06
Patient count

Gait disturbance: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Motor delay: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Nystagmus: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Optic atrophy: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Walking delay: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)