TBX3 - Gene browser

TBX3

T-box transcription factor 3

HCNC Approved Symbol: TBX3 (HGNC:11602)
Genomic Coordinates: 12:114,670,255 - 114,684,175 (12q24.21)
Synonyms: TBX3-ISO, XHL, UMS
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the TBX3 gene.

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

01
Patient count

Absent proximal finger flexion creases: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypoplastic nipples: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Intellectual disability: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Synostosis involving bones of the fingers: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)