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TBX6

T-box transcription factor 6

HCNC Approved Symbol
TBX6 (HGNC:11605)
Genomic Coordinates
16:30,085,793 - 30,091,924 (16p11.2)
Synonyms
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 TBX6 gene.

Frequently observed phenotypes

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

Fused ribs
 3 (50.0%)
Hemivertebrae
 3 (50.0%)
Interrupted aortic arch
 2 (33.3%)
Lumbar hemivertebrae
 2 (33.3%)
Lung hypoplasia
 2 (33.3%)
TBX6 - Gene browser | 3billion