| Term Name: | vertebral anomalies and variable endocrine and T-cell dysfunction | 
|---|---|
| Synonyms: | heterozygotes for TBX2 variants | 
| Definition: | A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments. | 
| Ontology: | Human Disease [DOID:0070345] ( DOID:0070345 ) |