Term Name: | vertebral anomalies and variable endocrine and T-cell dysfunction |
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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 ) |