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 )

Relationships
is a type of: autosomal dominant disease syndrome