vertebral anomalies and variable endocrine and T-cell dysfunction

Term ID

DOID:0070345

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. https://www.ncbi.nlm.nih.gov/pubmed/29726930

References

• OMIM:618223

Ontology

Human Disease   ( DOID:0070345 )