velocardiofacial syndrome
Findings
No curated finding names velocardiofacial syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
Definition from the Mondo Disease Ontology (MONDO:0008644), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Velopharyngeal insufficiencyHPOHP:0000220
- 38 of 38 reported patients
- Intellectual disabilityHPOHP:0001249
- 31 of 38 reported patients
- HypotoniaHPOHP:0001252
- 29 of 38 reported patients
- Short statureHPOHP:0004322
- 24 of 38 reported patients
- Submucous cleft hard palateHPOHP:0000176
- 15 of 38 reported patients
- Tetralogy of FallotHPOHP:0001636
- 3 of 16 reported patients
- Cleft palateHPOHP:0000175
- 7 of 38 reported patients
- HypocalcemiaHPOHP:0002901
- 5 of 38 reported patients
- Interrupted aortic archHPOHP:0011611
- 2 of 16 reported patients · Congenital onset
- Pulmonary artery atresiaHPOHP:0004935
- 2 of 16 reported patients
- TalipesHPOHP:0001883
- 4 of 38 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 38 reported patients · Congenital onset
Show the remaining 6
- HypoparathyroidismHPOHP:0000829
- 3 of 38 reported patients
- Inguinal herniaHPOHP:0000023
- 3 of 38 reported patients
- Double aortic archHPOHP:0011590
- 1 of 16 reported patients · Congenital onset
- Abnormal T cell physiologyHPOHP:0011840
- 2 of 38 reported patients
- Umbilical herniaHPOHP:0001537
- 2 of 38 reported patients
- Ventricular septal defectHPOHP:0001629
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBX1HGNC:11592
- Strong · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: velocardiofacial syndrome
- Also called
- 22q11 deletion syndromedeletion 22q11.2 syndromeShprintzen VCF syndromeVCF syndrome