Human genes for vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral anomalies and variable endocrine and T-cell dysfunction [DOID:0070345]
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.
Synonyms: vertebral anomalies and variable endocrine and T-cell dysfunction, DOID:0070345, vertebral anomalies and variable endocrine and Tcell dysfunction, vertebral anomalies and variable endocrine and T-cell dysfunctions, heterozygotes for TBX2 variants