| Metadata | |
|---|---|
| ID | DOID:12583 |
| Name | velocardiofacial syndrome |
| Definition | A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. https://www.genome.gov/Genetic-Disorders/Velocardiofacial-Syndrome, https://www.ncbi.nlm.nih.gov/pubmed/19243607 |
| Xrefs |
SNOMEDCT_US_2023_03_01:205642004 |
| Synonyms |
Shprintzen syndrome [EXACT] VCF-Velocardiofacial syndrome [EXACT] |
| Parent Relationships |