DiGeorge syndrome
Findings
No curated finding names DiGeorge syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.
Definition from the Mondo Disease Ontology (MONDO:0008564), read 2026-09-29. CC BY 4.0.
Features
33 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.
- Intellectual disabilityHPOHP:0001249
- 72 of 78 reported patients
- ScoliosisHPOHP:0002650
- 37 of 78 reported patients
- SeizureHPOHP:0001250
- 31 of 78 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 30 of 78 reported patients
- ObesityHPOHP:0001513
- 27 of 78 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 27 of 78 reported patients
- Seborrheic dermatitisHPOHP:0001051
Show the remaining 21
- Ovarian cystHPOHP:0000138
- 7 of 42 reported patients
- Hydrocele testisHPOHP:0000034
- 5 of 36 reported patients
- AsthmaHPOHP:0002099
- 10 of 78 reported patients
- AnemiaHPOHP:0001903
- 9 of 78 reported patients
- Patellar dislocationHPOHP:0002999
- 9 of 78 reported patients
- Recurrent sinusitisHPOHP:0011108
- 9 of 78 reported patients
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
- Definitive · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: DiGeorge syndrome
- Also called
- DGSDGS1Di-George syndromeDiGeorge anomalyDiGeorge syndrome type 1DiGeorge's syndromepharyngeal pouch syndrome