21q22.11q22.12 microdeletion syndrome
MONDO:0016845Mondo
Findings
No curated finding names 21q22.11q22.12 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
59 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.
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Bulbous noseHPOHP:0000414
- Frequent (30% to 79% of cases)
- CamptodactylyHPOHP:0012385
- Frequent (30% to 79% of cases)
- ClinodactylyHPOHP:0030084
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
Show the remaining 47
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Postnatal growth retardationHPOHP:0008897
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Severe global developmental delayHPOHP:0011344
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Sleep-wake cycle disturbanceHPOHP:0006979
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: 21q22.11q22.12 microdeletion syndrome
- Also called
- 21q22.11-q22.12 microdeletion syndromeDel(21)(q22.11q22.12)monosomy 21q22.11-q22.12monosomy 21q22.11q22.12