22q11.2 deletion syndrome

MONDO:0018923Mondo

Findings

No curated finding names 22q11.2 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Definition from the Mondo Disease Ontology (MONDO:0018923), read 2026-09-29. CC BY 4.0.

Features

134 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.

Abnormal aortic arch morphologyHPOHP:0012303
- Very frequent (80% to 99% of cases)
Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
Abnormal pulmonary valve morphologyHPOHP:0001641
- Very frequent (80% to 99% of cases)
Abnormality of the pharynxHPOHP:0000600
- Very frequent (80% to 99% of cases)
AphasiaHPOHP:0002381
- Very frequent (80% to 99% of cases)
Atrial septal defectHPOHP:0001631
- Very frequent (80% to 99% of cases)
Bulbous noseHPOHP:0000414
- Very frequent (80% to 99% of cases)
Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
Hypernasal speechHPOHP:0001611
- Very frequent (80% to 99% of cases)

Show the remaining 122

Hypoplasia of the thymusHPOHP:0000778
- Very frequent (80% to 99% of cases)
HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
PlatybasiaHPOHP:0002691
- Very frequent (80% to 99% of cases)
Prominent nasal bridgeHPOHP:0000426
- Very frequent (80% to 99% of cases)

Genes

4 genes

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.

JMJD1CHGNC:12313
- Supportive · Orphanet · Autosomal dominant · 2025
RREB1HGNC:10449
- Supportive · Orphanet · Autosomal dominant · 2025
SEC24CHGNC:10705
- Supportive · Orphanet · Autosomal dominant · 2025
TBX1HGNC:11592
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: chromosome 22q deletion
congenital nervous system disorder
heart disorder
immune system disorder
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
Narrower terms (4): chromosome 22q11.2 deletion syndrome, distal
congenital unilateral hypoplasia of depressor anguli oris
DiGeorge syndrome
velocardiofacial syndrome

Other names

9 names

Resolves to: 22q11.2 deletion syndrome

Also called: 22q11DScatch 22Cayler cardiofacial syndromeconotruncal anomaly face syndromemicrodeletion 22q11.2monosomy 22q11Sedlackova syndromeShprintzen syndromeTakao syndrome