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velocardiofacial syndrome
Summary
- Synonym
-
- 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.
- Super Class
- chromosomal deletion syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P47941 | Crk-like protein | |
| Q3TLI0 | Trafficking protein particle complex subunit 10 | |
| Q61614 | Endothelin-1 receptor | |
| Q9Z0E2 | Chordin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000385 | Small earlobe |
| HP:0000389 | Chronic otitis media |
| HP:0000396 | Overfolded helix |
| HP:0000405 | Conductive hearing impairment |
| HP:0000414 | Bulbous nose |
| HP:0000426 | Prominent nasal bridge |
| HP:0000431 | Wide nasal bridge |
| HP:0000453 | Choanal atresia |
