PAX7 - Gene browser

PAX7

paired box 7

HCNC Approved Symbol: PAX7 (HGNC:8621)
Genomic Coordinates: 1:18,630,846 - 18,748,866 (1p36.13)
Synonyms: Hup1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the PAX7 gene.

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

01
Patient count

Arched eyebrows: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Axial weakness: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Cryptorchidism, unilateral: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Developmental delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
High arched palate: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)