PHOX2B - Gene browser

PHOX2B

paired like homeobox 2B

HCNC Approved Symbol: PHOX2B (HGNC:9143)
Genomic Coordinates: 4:41,744,082 - 41,748,725 (4p13)
Synonyms: NBPhox, PMX2B
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the PHOX2B gene.

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

02
Patient count

Central hypoventilation: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Hirschsprung disease: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Aganglionic megacolon: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Facial nerve palsy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Facial palsy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)