| Metadata | |
|---|---|
| ID | DOID:0070345 |
| Name | vertebral anomalies and variable endocrine and T-cell dysfunction |
| 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 |
| Xrefs | |
| Synonyms |
heterozygotes for TBX2 variants [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |