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TBX4

T-box transcription factor 4

HCNC Approved Symbol
TBX4 (HGNC:11603)
Genomic Coordinates
17:61,452,422 - 61,485,110 (17q23.2)
Synonyms
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome
601360AR
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
147891AD

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the TBX4 gene.

Frequently observed phenotypes

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

Cardiomegaly
 1 (50.0%)
Growth retardation
 1 (50.0%)
Lung hypoplasia
 1 (50.0%)
Pericardial effusion
 1 (50.0%)
Pulmonary hypoplasia
 1 (50.0%)