OBO ID: DOID:12583
Term Name: velocardiofacial syndrome Search Ontology:
Synonyms:
  • Shprintzen syndrome
  • VCF-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.ncbi.nlm.nih.gov/pubmed/19243607
References:
Ontology: Human Disease   (DOID:12583)
OTHER velocardiofacial syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBX1 Velocardiofacial syndrome 192430
ZEBRAFISH MODELS
Fish Conditions Citations
tbx1tm208/tm208 standard conditions Piotrowski et al., 2003
PHENOTYPE No data available

CITATIONS (2)