vertebral anomalies and variable endocrine and T-cell dysfunction (DOID:0070345)
Alliance: disease page
Synonyms: heterozygotes for TBX2 variants
Alt IDs: OMIM:618223
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.